Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics

Purpose: CHD7 rare variants can cause congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome. We aimed to summarize the genotype and phenotype characteristics of CHH patients with CHD7 rare variants. Methods: Rare sequencing variants (RSVs) were detected by Sanger sequencing in a series...

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Detalles Bibliográficos
Autores principales: Sun, Bang, Wang, Xi, Mao, Jiangfeng, Zhao, Zhiyuan, Zhang, Wei, Nie, Min, Wu, Xueyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762265/
https://www.ncbi.nlm.nih.gov/pubmed/35047002
http://dx.doi.org/10.3389/fgene.2021.770680

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762265/
https://www.ncbi.nlm.nih.gov/pubmed/35047002
http://dx.doi.org/10.3389/fgene.2021.770680

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