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

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)39-42
Number of pages4
Journalclinical pediatric endocrinology
Volume33
Issue number1
DOIs
Publication statusPublished - 2024

Keywords

  • FGD1
  • FYVE domain
  • camptodactyly
  • short stature

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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