Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation-Reference-Cited by-同舟云学术

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Published:2007-03 Issue:3 Volume:80 Page:550-560
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Pasutto Francesca,Sticht Heinrich,Hammersen Gerhard,Gillessen-Kaesbach Gabriele,FitzPatrick David R.,Nürnberg Gudrun,Brasch Frank,Schirmer-Zimmermann Heidemarie,Tolmie John L.,Chitayat David,Houge Gunnar,Fernández-Martínez Lorena,Keating Sarah,Mortier Geert,Hennekam Raoul C.M.,von der Wense Axel,Slavotinek Anne,Meinecke Peter,Bitoun Pierre,Becker Christian,Nürnberg Peter,Reis André,Rauch Anita

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference36 articles.

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4. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10;Ferda Percin;Nat Genet,2000

5. Mutations in SOX2 cause anophthalmia;Fantes;Nat Genet,2003

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