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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

✍ Scribed by Nicolas Chassaing; Brigitte Gilbert-Dussardier; Florence Nicot; Véronique Fermeaux; Férechté Encha-Razavi; Maryse Fiorenza; Annick Toutain; Patrick Calvas


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
130 KB
Volume
143A
Category
Article
ISSN
1552-4825

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