Associated Papers
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
38148819 (PubMed )
Supplement: mmc1.docx
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
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.
Kim JH et al.
Endocrine Connections, 2022
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim JH et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019
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