Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. (2023)

First Author: Schönauer R
Attributed to:  Rare Disease Research Platform: The renal ciliopathies national network (RCNN) funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.ajhg.2023.04.010

PubMed Identifier: 37207645

Publication URI: http://europepmc.org/abstract/MED/37207645

Type: Journal Article/Review

Volume: 110

Parent Publication: American journal of human genetics

Issue: 6

ISSN: 0002-9297