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A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal
(Editrice Kurtis S R LMilanItália, 2005)
Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis
(Associação Brasileira de Divulgação Científica, 2005)
Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
Despite advances in our understanding of the mechanisms involved in sex determination and differentiation, the specific roles of many genes in these processes are not completely understood in humans. Both DMRT1 and FGF9 ...
A Cytogenomic Approach In A Case Of Syndromic Xy Gonadal Dysgenesis
(KARGERBASEL, 2016)
Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis
(Freund Publishing House LtdLondonInglaterra, 1999)
The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
(KARGER, 2011)
Background: The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its ...