Article
46,XX gonadal dysgenesis associated with congenital nerve deafness.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics - 1 Jan 2000
Granat M, Reiter A, Dar H, Sharf M
Abstract excerpt
A sporadic case of a woman presenting with the combination of pure 46,XX gonadal dysgenesis and congenital nerve deafness is reported. A similar association had been reported as a rare familial occurrence. The apparent heterogeneity of phenotypic characteristics among the previously reported individuals and the possible genetic implications are discussed.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.