A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
Ikuko Takahashi, Atsuko Noguchi, Daiki Kondo, Yoko Sato, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Tsutomu Takahashi
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