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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Samaneh Sharif, Saba Vakili, Moein Mobini, Malihe Lotfi, Fatemeh Zarei, Mohammad Reza Abbaszadegan, Rahim Vakili
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	SpringerOpen 2022-05-01
Цуврал:	Egyptian Journal of Medical Human Genetics
Нөхцлүүд:	Leydig cell hypoplasia Disorder of sexual differentiation LHCGR gene Novel variants
Онлайн хандалт:	https://doi.org/10.1186/s43042-022-00305-w
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!