Aarskog-Scott syndrome

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An X-linked developmental disorder (faciogenital dysplasia, FGDY) in which stature is disproportionately short and there are facial, skeletal, and urogenital abnormalities. The syndrome is caused by mutations in FYVE, RhoGEF and PH domain-containing protein-1 (FGD1).

Subjects: Chemistry — Medicine and Health.

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