一名患有性腺功能减退症的男婴体内位于转录激活结构域的新型 SOX2 框移致病变体。

IF 1 Q4 ENDOCRINOLOGY & METABOLISM Clinical Pediatric Endocrinology Pub Date : 2024-10-01 Epub Date: 2024-08-19 DOI:10.1297/cpe.2024-0013
Ayano Kimura-Yoshida, Takeshi Sato, Yosuke Ichihashi, Masanori Wasa, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa
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A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.
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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
期刊最新文献
A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism. CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report. Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL. Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report. Initial clinical manifestations in a young male with RFX6-variant-associated diabetes.
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