Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis

Asma Tajouri,Dorsaf Ben Gaied,Syrine Hizem,Salma Boujelben,Faouzi Maazoul,Ridha Mrad,Francis Poulat,Maher Kharrat

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis

2017

Asma Tajouri
Dorsaf Ben Gaied
Syrine Hizem
Salma Boujelben
Faouzi Maazoul
Ridha Mrad
Francis Poulat
Maher Kharrat

Complete gonadal dysgenesis (CGD) is characterized by an incomplete differentiation of the genital organs in a patient with a 46,XY karyotype. It is induced by mutations in the sex-determining region

Keywords:

Testis determining factor
Endocrinology
Genetics
Internal medicine
Functional analysis
Biology
Gonadal dysgenesis
XY karyotype
Sex organ
Molecular biology
Gene
High-mobility group
Mutation
Sex reversal
Disorders of sex development
Nuclear localization sequence

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