Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Negative forSOX2Mutation-Reference-Cited by-同舟云学术

Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Negative forSOX2Mutation

Published:2013-03-05 Issue:5 Volume:161 Page:1189-1193
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Corona-Rivera J. Román¹,Zenteno Juan Carlos²,Pelcastre-Luna Erika²,Miguel-Jiménez Karla¹,Aguirre-Guillén Rafael L.¹,Cabral-Macías Jesús¹,Peña-Padilla Christian¹,Bobadilla-Morales Lucina¹,Corona-Rivera Alfredo¹

Affiliation:

1. División de Pediatría; Centro de Registro e Investigación sobre Anomalías Congénitas (CRIAC), Servicio de Genética y Unidad de Citogenética, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca” e Instituto de Genética Humana “Dr. Enrique Corona Rivera,” Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara; Guadalajara, Jalisco; Mexico

2. Facultad de Medicina, Departamento de Bioquímica; UNAM-Instituto de Oftalmología “Conde de Valenciana,”; México, D.F.; Mexico

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35854/fullpdf

Reference28 articles.

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3. Association of anophthalmia and esophageal atresia: Four new cases identified by the Anophthalmia/Microphthalmia Clinical Registry;Bardakjian;Am J Med Genet Part A,2005

4. Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia;Bonneau;Am J Med Genet Part A,2004

5. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement;Chassaing;Am J Med Genet Part A,2007