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

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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Bibliographic Details
Main Authors: Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Format: Article
Language:English
Published: Bioscientifica 2023-04-01
Series:Endocrine Connections
Subjects:
anos1
copy number variation
kallmann syndrome
multiplex ligation-dependent probe amplification
hypogonadotropic hypogonadism
Online Access:https://ec.bioscientifica.com/view/journals/ec/12/5/EC-22-0413.xml

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https://ec.bioscientifica.com/view/journals/ec/12/5/EC-22-0413.xml

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