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Case Reports
. 2007 Feb 1;143A(3):289-91.
doi: 10.1002/ajmg.a.31524.

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Nicolas Chassaing  1 , Brigitte Gilbert-Dussardier, Florence Nicot, Véronique Fermeaux, Férechté Encha-Razavi, Maryse Fiorenza, Annick Toutain, Patrick Calvas
Affiliations
Case Reports

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Nicolas Chassaing et al. Am J Med Genet A. .
No abstract available

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