Bain type of X-linked syndromic mental retardation in boys

Clin Genet. 2019 Jun;95(6):734-735. doi: 10.1111/cge.13524. Epub 2019 Mar 18.

Authors

Stefani Harmsen¹, Rebecca Buchert^{2

3}, Ertan Mayatepek¹, Tobias B Haack^{2

3}, Felix Distelmaier¹

Affiliations

¹ Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
² Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
³ Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.

PMID: 30887513
DOI: 10.1111/cge.13524

Abstract

A hemizygous variant in the HNRNPH2 gene causes MRXSB in a male individual.

© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Humans
Intellectual Disability*
Male
Syndrome
X-Linked Intellectual Disability*