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
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
Shoji Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2014
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