Associated Papers
Congenital Hypogonadotropic Hypogonadism Caused by Prokineticin Receptor 2 Rare Sequence Variants: Molecular Genetics, Clinical Phenotypes and Therapeutic Outcomes From a Single-center Cohort.
Wang Y et al.
Andrology, 2026
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
40322553 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_S2
Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.
Yang H et al.
Pediatric Research, 2025
Clinical and genetic evaluation of children with short stature of unknown origin.
Zhao Q et al.
Bmc Medical Genomics, 2023
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X et al.
Human Molecular Genetics, 2023
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.
Martinez-Mayer J et al.
Frontiers in Endocrinology, 2023
SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism.
Wu J et al.
Hormone Research in Paediatrics, 2022
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0
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