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- Title
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
- Authors
Ikuko Takahashi; Atsuko Noguchi; Daiki Kondo; Yoko Sato; Hisato Suzuki; Mamiko Yamada; Kenjiro Kosaki; Tsutomu Takahashi
- Abstract
This article presents a case study of two Japanese siblings with Aarskog-Scott syndrome (AAS), a rare genetic disorder. The study identifies a new genetic variant in the FGD1 gene, which is associated with AAS. The variant was found in the affected siblings and their mother, but not in a group of healthy individuals. The study emphasizes the significance of the FYVE domain in the FGD1 gene as a region prone to mutations in AAS.
- Publication
Clinical Pediatric Endocrinology, 2024, Vol 33, Issue 1, p39
- ISSN
0918-5739
- Publication type
Article
- DOI
10.1297/cpe.2023-0027