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Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement
Author(s) -
Chassaing Nicolas,
GilbertDussardier Brigitte,
Nicot Florence,
Fermeaux Véronique,
EnchaRazavi Férechté,
Fiorenza Maryse,
Toutain Annick,
Calvas Patrick
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31524
Subject(s) - anophthalmia , hypoplasia , medicine , pathology , anatomy , atresia , biology , microphthalmia , genetics , gene