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Article

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

3 Jul 2020

Abstract excerpt

Isolated hypogonadotropic hypogonadism (IHH), combined pituitary hormone deficiency (CPHD), and septo-optic dysplasia (SOD) constitute a disease spectrum whose etiology remains largely unknown. This study aimed to clarify whether mutations in SMCHD1, an epigenetic regulator gene, might underlie this disease spectrum. SMCHD1 is a causative gene for Bosma arhinia microphthalmia syndrome characterized by arhinia,...

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PMID: 32620854
DOI: 10.1038/s41598-020-67715-x

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Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiencyPMID 32620854Read ↗

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