First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype-Reference-Cited by-同舟云学术

First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype

Published:2011-09-29 Issue:12 Volume:32 Page:1417-1426
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Casey Jillian,Kawaguchi Riki,Morrissey Maria,Sun Hui,McGettigan Paul,Nielsen Jens E.,Conroy Judith,Regan Regina,Kenny Elaine,Cormican Paul,Morris Derek W.,Tormey Peter,Ní Chróinín Muireann,Kennedy Breandan N.,Lynch SallyAnn,Green Andrew,Ennis Sean

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference60 articles.

1. Structure-activity and dose-response relationships in the neural and behavioral teratogenesis of retinoids;Adams;Neurotoxicol Teratol,1993

2. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism;Amiel;Eur J Hum Genet,2000

3. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome;Beales;Am J Hum Genet,2003

4. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32;Bessant;Am J Hum Genet,1998

5. Transport and storage of vitamin A;Blomhoff;Science,1990

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