Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism

OBJECTIVE: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiplex ligation-dependent probe amplification (MLPA) an...

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Detalles Bibliográficos
Autores principales: Hye Kim, Ja, Choi, Yunha, Hwang, Soojin, Yoon, Ji-Hee, Lee, Jieun, Jae Kang, Min, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160557/
https://www.ncbi.nlm.nih.gov/pubmed/36917044
http://dx.doi.org/10.1530/EC-22-0413

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