A novel missense variant of <i>FGD1</i> disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

Takahashi, Ikuko; Noguchi, Atsuko; Kondo, Daiki; Sato, Yoko; Suzuki, Hisato; Yamada, Mamiko; Kosaki, Kenjiro; Takahashi, Tsutomu.

Takahashi I; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Kondo D; Department of Pediatrics, Akita Kousei Medical Center, Akita, Japan.
Sato Y; Department of Pediatrics, Hiraka General Hospital, Yokote, Japan.
Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Takahashi T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.

Clin Pediatr Endocrinol ; 33(1): 39-42, 2024.

Article en En | MEDLINE | ID: mdl-38299177