Article

Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

2023-10-23

Abstract excerpt

ATR-X ( al pha t halassemia, m ental r etardation, X -linked) syndrome is a severe developmental disorder affecting males caused by mutations in the chromatin remodelling gene ATRX . Genital abnormalities in affected boys include hypospadias and ambiguous genitalia, and patients show small poorly formed testes with only a few seminiferous tubules. Our mouse model recapitulated these testicular defects when...

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Literature Corpus work: 96b0adae-5227-5ab2-a630-dfbf35b4e776
DOI: 10.1101/2023.10.21.562414

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