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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-38299177
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Pediatr Endocrinol / Clinical pediatric endocrinology Year: 2024 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Pediatr Endocrinol / Clinical pediatric endocrinology Year: 2024 Document type: Article Affiliation country: Country of publication: