Article
Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.
Human molecular genetics - 1 Jun 2011
Bagheri-Fam Stefan, Argentaro Anthony, Svingen Terje, Combes Alexander N, Sinclair Andrew H, Koopman Peter, Harley Vincent R
Abstract excerpt
X-linked ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome in males is characterized by mental retardation, facial dysmorphism, alpha thalassemia and urogenital abnormalities, including small testes. It is unclear how mutations in the chromatin-remodeling protein ATRX cause these highly specific clinical features, since ATRX is widely expressed during organ development. To investigate the...
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