A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
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J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587.
J Clin Invest. 2021.
PMID: 34730112
Free PMC article.