Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.
Chassaing
Nicolas
N
Department of Medical Genetics, Hôpital Purpan, Toulouse, France.
Gilbert-Dussardier
Brigitte
B
Nicot
Florence
F
Fermeaux
Véronique
V
Encha-Razavi
Férechté
F
Fiorenza
Maryse
M
Toutain
Annick
A
Calvas
Patrick
P
D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D004933:Esophageal Atresia / Q000235:genetics*; D005123:Eye / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology; D005831:Genital Diseases, Female / Q000151:congenital / Q000235:genetics*; D024002:HMGB Proteins / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D055748:SOXB1 Transcription Factors; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D024002:HMGB Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors