Germinal mosaicism and familial recurrence of aSOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement-Reference-Cited by-同舟云学术

Germinal mosaicism and familial recurrence of aSOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Published:2007 Issue:3 Volume:143A Page:289-291
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chassaing Nicolas,Gilbert-Dussardier Brigitte,Nicot Florence,Fermeaux Véronique,Encha-Razavi Férechté,Fiorenza Maryse,Toutain Annick,Calvas Patrick

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Functional analysis of the chicken δ1-crystallin enhancer activity in Drosophila reveals remarkable evolutionary conservation between chicken and fly

2. Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia

3. Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

4. Mutations in SOX2 cause anophthalmia

5. Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain

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