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A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report

BACKGROUND: Variants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for 5–6% of idiopathic hypogonadotropic hypogonadism (IHH) cases. Here we report a novel mutation of CHD7 gene in a patient with KS, which may contribute to...

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Detalles Bibliográficos
Autores principales:	Xu, Weiwei, Zhou, Weibin, Lin, Haiyang, Ye, Dan, Chen, Guoping, Dong, Fengqin, Shen, Jianguo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8465769/ https://www.ncbi.nlm.nih.gov/pubmed/34563184 http://dx.doi.org/10.1186/s12902-021-00836-0

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