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

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...

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Published in:Sci Rep
Main Authors: Kinjo, Kenichi, Nagasaki, Keisuke, Muroya, Koji, Suzuki, Erina, Ishiwata, Keisuke, Nakabayashi, Kazuhiko, Hattori, Atsushi, Nagao, Koji, Nozawa, Ryu-Suke, Obuse, Chikashi, Miyado, Kenji, Ogata, Tsutomu, Fukami, Maki, Miyado, Mami
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7335161/
https://ncbi.nlm.nih.gov/pubmed/32620854
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-67715-x
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