The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene

ABSTRACT Background Isolated hypogonadotropic hypogonadism (IHH) is a rare endocrine disorder caused by genes such as ANOSI (OMIM*300836), FGFR1 (OMIM*136350), PROK2 (OMIM*607002) and PROKR2 (OMIM*607123) (etc.), leading to downstream dysfunction of pituitary gonadotropin secretion and subsequent im...

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Principais autores:	Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2026-07-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	deep intronic variants hypogonadotropic hypogonadism minigene splice‐ site variant whole genome sequencing
Acesso em linha:	https://doi.org/10.1002/mgg3.70267
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