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Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog–Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not yet reported for FGD1 but known to exist for other genes such as MECP2. We report...
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