Recessive PRDM13 Mutations Result in Hypogonadotropic Hypogonadism and Cerebellar Hypoplasia

PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A. Here, we report a novel, recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar...

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Vydáno v:J Endocr Soc
Hlavní autoři: Oleari, Roberto, Whittaker, Danielle, Gregory, Louise Cheryl, Albert, Basson, Cariboni, Anna Maria, Dattani, Mehul Tulsidas
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
Neuroendocrinology and Pituitary
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090531/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1122
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