A novel variant luteinizing hormone receptor in the first transmembrane helix of two homozygous Iranian patients: case report

A novel variant luteinizing hormone receptor in the first transmembrane helix of two homozygous Iranian patients: case report

Abstract Background Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46, XY individuals and is one of the causes of disorder of sexual differentiation (DSD) in males. The responsible gene of LCH is LHCGR w...

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Bibliographic Details
Main Authors: Samaneh Sharif, Saba Vakili, Moein Mobini, Malihe Lotfi, Fatemeh Zarei, Mohammad Reza Abbaszadegan, Rahim Vakili
Format: Article
Language:English
Published: SpringerOpen 2022-05-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Leydig cell hypoplasia
Disorder of sexual differentiation
LHCGR gene
Novel variants
Online Access:https://doi.org/10.1186/s43042-022-00305-w

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