Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6 (Englisch)

In: Clinical dysmorphology   ;  25 ,  1  ;  12-15  ;  2016
  • ISSN:
  • Aufsatz (Zeitschrift)  /  Print

Wie erhalte ich diesen Titel?

Inhaltsverzeichnis – Band 25, Ausgabe 1

Zeige alle Jahrgänge und Ausgaben

Die Inhaltsverzeichnisse werden automatisch erzeugt und basieren auf den im Index des TIB-Portals verfügbaren Einzelnachweisen der enthaltenen Beiträge. Die Anzeige der Inhaltsverzeichnisse kann daher unvollständig oder lückenhaft sein.

1
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis–van Creveld syndrome
Aziz, Abdul / Raza, Syed I. / Ali, Salman / Ahmad, Wasim | 2016
7
Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy
Matulevičienė, Aušra / Meškienė, Raimonda / Morkūnienė, Aušra / Ambrozaitytė, Laima / Meškauskas, Raimundas / Garunkštienė, Rasa / Drazdienė, Nijolė / Utkus, Algirdas / Kučinskas, Vaidutis | 2016
12
Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6
Becerra-Solano, Luis E. / Chacón, Liliana / Morales-Mata, Dinorah / Zenteno, Juan C. / Ramírez-Dueñas, Maria L. / García-Ortiz, Jose E. | 2016
16
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome
McDermott, John H. / Byers, Helen / Clayton-Smith, Jill | 2016
19
Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability
Balasubramanian, Meena / Sithambaram, Sivagamy / Smith, Kath | 2016
23
Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding
Al-Shehhi, Maryam / Betts, David / Mc Ardle, Linda / Donoghue, Veronica / Reardon, William | 2016
27
Mardini–Nyhan association (LACHT syndrome) with intrauterine fetal demise
Jaiman, Sunil / Surampudi, Kameswari / Gundabattula, Sirisha R. / Nalluri, Hima B. | 2016
31
First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis?
Duman, Reşat / Duman, Nilay / Elmas, Muhsin / Fatma Yavaş, Güliz | 2016
35
Penile duplication as genital abnormality in OEIS complex: a fetal autopsy case report
Kaur, Anupriya / Pushpaja, Jessy Jayaraman / Prasad, Arun / Kaur, Amandeep / Singh, Jyotsana | 2016
37
DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature
Ting, Teck Wah / Brett, Maggie S. / Cham, Breana W.M. / Lim, Jiin-Ying / Law, Hai Yang / Tan, Ene Choo / Lai, Angeline H.M. / Jamuar, Saumya S. | 2016
41
Human tail: a rare feature of amniotic band syndrome?
Gkourogianni, Alexandra / Dermentzoglou, Vasiliki / Skiathitou, Anna-Venetia / Tsina, Euthymia / Giannakopoulou, Christina / Siahanidou, Tania | 2016
Feedback