title: Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.
authors.affiliation: Department of Medical Genetics, Hôpital Purpan, Toulouse, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: Florence
authors.initials: F
authors.lastname: Nicot
authors.forename: Véronique
authors.initials: V
authors.lastname: Fermeaux
authors.forename: Férechté
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: Maryse
authors.initials: M
authors.lastname: Fiorenza
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
mesh_terms: 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*
chemical_list: D024002:HMGB Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors