Associated Papers
De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.
Wu J et al.
Bmc Pediatrics, 2025
Analysis of TRIOBP gene in non-syndromic deafness: A case report.
Zhou H et al.
Medicine, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
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