Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6-Reference-Cited by-同舟云学术

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Published:2007-06 Issue:6 Volume:80 Page:1179-1187
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Golzio Christelle,Martinovic-Bouriel Jelena,Thomas Sophie,Mougou-Zrelli Soumaya,Grattagliano-Bessières Bettina,Bonnière Maryse,Delahaye Sophie,Munnich Arnold,Encha-Razavi Férechté,Lyonnet Stanislas,Vekemans Michel,Attié-Bitach Tania,Etchevers Heather C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference43 articles.

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3. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea;Voronina;Hum Mol Genet,2004

4. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects;Glaser;Nat Genet,1994

5. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies;Azuma;Am J Hum Genet,1999

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