Associated Papers
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Takada S et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
40687947 (PubMed )
Supplement: mmc1.docx
Congenital hypogonadotropic hypogonadism complicated by neuroblastoma.
Ueta Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.
Alzahrani AJ et al.
Case Reports in Pediatrics, 2019
Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency.
Shimizu K et al.
Journal of the Endocrine Society, 2017
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