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...

Full description

Saved in:
Bibliographic Details
Published in:J Endocr Soc
Main Authors: Oleari, Roberto, Whittaker, Danielle, Gregory, Louise Cheryl, Albert, Basson, Cariboni, Anna Maria, Dattani, Mehul Tulsidas
Format: Artigo
Language:Inglês
Published: Oxford University Press 2021
Subjects:
Neuroendocrinology and Pituitary
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090531/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1122
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items