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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.

IF 1 Q4 ENDOCRINOLOGY & METABOLISM
Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-01-28 DOI:10.1297/cpe.2023-0027
Ikuko Takahashi, Atsuko Noguchi, Daiki Kondo, Yoko Sato, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Tsutomu Takahashi
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FGD1的一种新型错义变体破坏了日本Aarskog-Scott综合征同胞FYVE结构域的关键半胱氨酸残基。
本文章由计算机程序翻译，如有差异，请以英文原文为准。
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来源期刊
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.40
自引率
7.10%
发文量
34
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