Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging (English)
- New search for: McInerney‐Leo, Aideen M.
- New search for: West, Jennifer A.
- New search for: McGill, Jim J.
- New search for: Brown, Matthew A.
- New search for: Duncan, Emma L.
- New search for: West, Malcolm J.
- New search for: McInerney‐Leo, Aideen M.
- New search for: West, Jennifer A.
- New search for: McGill, Jim J.
- New search for: Brown, Matthew A.
- New search for: Duncan, Emma L.
- New search for: West, Malcolm J.
In:
American Journal of Medical Genetics Part A
;
182
, 4
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829-830
;
2020
- Article (Journal) / Electronic Resource
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Title:Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging
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Contributors:McInerney‐Leo, Aideen M. ( author ) / West, Jennifer A. ( author ) / McGill, Jim J. ( author ) / Brown, Matthew A. ( author ) / Duncan, Emma L. ( author ) / West, Malcolm J. ( author )
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Published in:American Journal of Medical Genetics Part A ; 182, 4 ; 829-830
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Publisher:
- New search for: John Wiley & Sons, Inc.
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Publication date:2020-04-01
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Size:2 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 182, Issue 4
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 609
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Table of Contents, Volume 182A, Number 4, April 2020| 2020
- 614
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Publication schedule for 2020| 2020
- 615
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MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay| 2020
- 616
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PPP1R12A Pathogenic Variants Associated with Human Congenital Malformations Syndrome| 2020
- 618
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In This Issue| 2020
- 619
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MECP2 duplication syndrome in a patient from CameroonTekendo‐Ngongang, Cedrik / Dahoun, Sophie / Nguefack, Séraphin / Moix, Isabelle / Gimelli, Stefania / Zambo, Huguette / Morris, Michael A. / Sloan‐Béna, Frédérique / Wonkam, Ambroise et al. | 2020
- 623
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Genetic evaluation including exome sequencing of two patients with Gomez‐Lopez‐Hernandez syndrome: Case reports and review of the literatureLindsay, Faith / Anderson, Ilse / Wentzensen, Ingrid M. / Suhrbier, David / Stevens, Cathy A. et al. | 2020
- 628
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First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reductionDíaz‐González, Francisca / Parrón‐Pajares, Manuel / Barcia‐Ramirez, Ana / Heath, Karen E. et al. | 2020
- 632
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Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomaliesMubungu, Gerrye / Lumaka, Aimé / Mvuama, Nono / Tshika, Dahlie / Makay, Prince / Tshilobo, Prosper Lukusa / Devriendt, Koenraad et al. | 2020
- 640
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The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case seriesWang, Yirou / Li, Niu / Su, Zhe / Xu, Yufei / Liu, Shijian / Chen, Yao / Li, Xin / Shen, Yiping / Hung, Christina / Wang, Jian et al. | 2020
- 652
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Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONOSewani, Maham / Nugent, Kimberly / Blackburn, Patrick R. / Tarnowski, Jessica M. / Hernandez‐Garcia, Andres / Amiel, Jeanne / Whalen, Sandra / Keren, Boris / Courtin, Thomas / Rosenfeld, Jill A. et al. | 2020
- 659
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Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndromeOto, Yuji / Murakami, Nobuyuki / Matsubara, Keiko / Saima, Sohei / Ogata, Hiroyuki / Ihara, Hiroshi / Nagai, Toshiro / Matsubara, Tomoyo et al. | 2020
- 664
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Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcomeLemire, Gabrielle T. / Beauregard‐Lacroix, Éliane / Campeau, Philippe M. / Parent, Stefan / Roy‐Beaudry, Marjolaine / Soglio, Dorothée Dal / Grignon, Andrée / Rypens, Françoise / Wavrant, Sandrine / Laberge, Anne‐Marie et al. | 2020
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Tatton‐Brown‐Rahman syndrome: Six individuals with novel featuresBalci, Tugce B. / Strong, Alana / Kalish, Jennifer M. / Zackai, Elaine / Maris, John M. / Reilly, Anne / Surrey, Lea F. / Wertheim, Gerald B. / Marcadier, Julien L. / Graham, Gail E. et al. | 2020
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Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1AMedina, Cristina T. N. / Sandoval, Renata / Oliveira, Gabriela / da Costa Silveira, Karina / Cavalcanti, Denise P. / Pogue, Robert et al. | 2020
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Grandparental genotyping enhances exome variant interpretationDaum, Hagit / Mor‐Shaked, Hagar / Ta‐Shma, Asaf / Shaag, Avraham / Silverstein, Shira / Shohat, Mordechai / Elpeleg, Orly / Meiner, Vardiella / Harel, Tamar et al. | 2020
- 697
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter studyMachol, Keren / Hadley, Trevor D. / Schmidt, Jake / Cuthbertson, David / Traboulsi, Henri / Silva, Rodrigo C. / Citron, Chloe / Khan, Sobiah / Citron, Kate / Carter, Erin et al. | 2020
- 705
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Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in EuropeYıldız, Yılmaz / Arslan, Mutluay / Çelik, Gökalp / Kasapkara, Çiğdem Seher / Ceylaner, Serdar / Dursun, Ali / Sivri, Hatice Serap / Coşkun, Turgay / Tokatlı, Ayşegül et al. | 2020
- 713
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Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathyKanani, Farah / Titheradge, Hannah / Cooper, Nicola / Elmslie, Frances / Lees, Melissa M. / Juusola, Jane / Pisani, Laura / McKenna, Carolyn / Mignot, Cyril / Valence, Stephanie et al. | 2020
- 721
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Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopyYang, Chia‐Feng / Niu, Dau‐Ming / Tai, Shyh‐Kuan / Wang, Ting‐Hao / Su, Hsiao‐Ting / Huang, Ling‐Yi / Soong, Wen‐Jue et al. | 2020
- 730
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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eyePölsler, Laura / Schatz, Ulrich A. / Simma, Burkhard / Zschocke, Johannes / Rudnik‐Schöneborn, Sabine et al. | 2020
- 735
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Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2Sato, Taisuke / Kojima, Takashi / Samura, Osamu / Kawaguchi, Satoshi / Nakamura, Akie / Nakajima, Masahiro / Tanuma‐Takahashi, Akiko / Nakabayashi, Kazuhiko / Hata, Kenichiro / Ikegawa, Shiro et al. | 2020
- 740
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A Turkish patient with novel AHCY variants and presumed diagnosis of S‐adenosylhomocysteine hydrolase deficiencyBas, Hasan / Cilingir, Oguz / Tekin, Neslihan / Saylisoy, Suzan / Durak Aras, Beyhan / Uzay, Elif / Erzurumluoglu Gokalp, Ebru / Artan, Sevilhan et al. | 2020
- 746
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Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysmSheppard, Sarah E. / Smith, Anna / Grand, Katheryn / Pogoriler, Jennifer / Rubin, Adam I. / Schindewolf, Erica / Fitzgerald, Mark P. / Moldenhauer, Julie / Laje, Pablo / Peranteau, William et al. | 2020
- 755
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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertensionBirjiniuk, Alona / Glinton, Kevin E. / Villafranco, Natalie / Boyer, Suzanne / Laufman, Jason / Mizerik, Elizabeth / Scott, Daryl / Elsea, Sarah H. / Galambos, Csaba / Varghese, Nidhy P. et al. | 2020
- 762
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KPTN gene homozygous variant‐related syndrome in the northeast of Brazil: A case reportLucena, Pedro H. / Armani‐Franceschi, Giulia / Bispo‐Torres, Ana Cecília / Bandeira, Igor D. / Lucena, Mariana F. G. / Maldonado, Igor / Veiga, Marielza F. / Miguel, Diego / Lucena, Rita et al. | 2020
- 768
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Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?Gabbett, Michael T. / Jeavons, Cassandra J. / Gray, Peter H. et al. | 2020
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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 geneMidro, Alina T. / Stasiewicz‐Jarocka, Beata / Borys, Jan / Hubert, Ewa / Skotnicka, Bożena / Hassmann‐Poznańska, Elżbieta / Sierpińska, Teresa / Panasiuk, Barbara / Schanze, Denny / Zenker, Martin et al. | 2020
- 780
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A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testingD'Gama, Alissa M. / Brucker, William J. / Zhang, Tian / Gubbels, Cynthia S. / Ferdinandusse, Sacha / Shi, Jiahai / Grant, Patricia Ellen / VanNoy, Grace / Genetti, Casie A. / Juusola, Jane et al. | 2020
- 785
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Further delineation of METTL23‐associated intellectual disabilityAlmannai, Mohammed / Obaid, Osama / Faqeih, Eissa / Alasmari, Ali / Samman, Manar M. / Pinz, Hailey / Braddock, Stephen R. / Alkuraya, Fowzan S. et al. | 2020
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Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literatureAssoum, Mirna / Bruel, Ange‐Line / Crenshaw, Melissa L. / Delanne, Julian / Wentzensen, Ingrid M. / McWalter, Kirsty / Dent, Karin M. / Vitobello, Antonio / Kuentz, Paul / Thevenon, Julien et al. | 2020
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Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutationAmlie‐Wolf, Louise / Moyer‐Harasink, Sue / Carr, Ann‐Marie / Giampietro, Philip / Schneider, Adele / Simon, Mitchell et al. | 2020
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Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequenceRadhakrishnan, Periyasamy / Shukla, Anju / Girisha, Katta M. / Nayak, Shalini S. et al. | 2020
- 808
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White vitreous opacities in five patients with Gaucher disease type 3Seehra, Gurpreet K. / Eghbali, Areian / Sidransky, Ellen / FitzGibbon, Edmond et al. | 2020
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Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testingHu, Jie / Ou, Zhishuo / Surti, Urvashi / Kochmar, Sally / Hoffner, Lori / Madan‐Khetarpal, Suneeta / Arnold, Georgianne L. / Walsh, Leslie / Acquaro, Roxanne / Sebastian, Jessica et al. | 2020
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Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotypePeron, Angela / Novara, Francesca / La Briola, Francesca / Merati, Elisabetta / Giannusa, Emanuela / Segalini, Elena / Anniballi, Gloria / Vignoli, Aglaia / Ciccone, Roberto / Canevini, Maria Paola et al. | 2020
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Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challengingMcInerney‐Leo, Aideen M. / West, Jennifer A. / McGill, Jim J. / Brown, Matthew A. / Duncan, Emma L. / West, Malcolm J. et al. | 2020
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Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reportsChougui, Khadidja / Addab, Sofia / Palomo, Telma / Morin, Suzanne N. / Veilleux, Louis‐Nicolas / Bernstein, Mitchell / Thorstad, Kelly / Hamdy, Reggie / Tsimicalis, Argerie et al. | 2020
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Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathiesGross, Andrea M. / Frone, Megan / Gripp, Karen W. / Gelb, Bruce D. / Schoyer, Lisa / Schill, Lisa / Stronach, Beth / Biesecker, Leslie G. / Esposito, Dominic / Hernandez, Edjay Ralph et al. | 2020
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40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual MeetingBraddock, Stephen R. / Lipinski, Robert J. / Carey, John C. et al. | 2020
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Cover Image, Volume 182A, Number 4, April 2020| 2020