Associated Papers
LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.
Barnabas R et al.
Endocrine Connections, 2024
Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.
Xu Y et al.
The Journal of Obstetrics and Gynaecology Research, 2023
A rare cause of primary amenorrhea: LHCGR gene mutations.
Aktar Karakaya A et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2022
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia
Yan M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
[Clinical features and INS mutations of an infant with neonatal diabetes mellitus].
Luo YF et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.
Özen S et al.
Hormone Research in Paediatrics, 2017
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