Article

A recessive <i>PRDM13</i> mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

2021-07-31

Abstract excerpt

PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A, which in turn controls GABAergic fate in the spinal cord and neuronal development in the hypothalamus. Here, we report a novel, recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia, s...

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Literature Corpus work: 9e0a4d84-7d9b-5eff-84cc-18172e8375bb
DOI: 10.1101/2021.07.28.21260126

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