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ATRX has a critical and conserved role in mammalian sexual differentiation

Huyhn, Kim; Renfree, Marilyn B; Graves, Jennifer A; Pask, Andrew J

Description

BACKGROUND X-linked alpha thalassemia, mental retardation syndrome in humans is a rare recessive disorder caused by mutations in the ATRX gene. The disease is characterised by severe mental retardation, mild alpha-thalassemia, microcephaly, short stature, facial, skeletal, genital and gonadal abnormalities. RESULTS We examined the expression of ATRX and ATRY during early development and gonadogenesis in two distantly related mammals: the tammar wallaby (a marsupial) and the mouse (a eutherian)....[Show more]

CollectionsANU Research Publications
Date published: 2011-06-14
Type: Journal article
URI: http://hdl.handle.net/1885/17017
Source: BMC Developmental Biology
DOI: 10.1186/1471-213X-11-39

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