Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2

Clin Genet. 2019 Aug;96(2):183-185. doi: 10.1111/cge.13580. Epub 2019 Jun 24.

Authors

Wayne M Jepsen^{1

2

3}, Keri Ramsey^{1

2}, Szabolcs Szelinger^{1

2}, Lorida Llaci^{1

2}, Chris Balak^{1

2}, Newell Belnap², Cherae Bilagody^{1

2}, Matthew De Both^{1

2}, Raj Gupta¹, Marcus Naymik^{1

2}, Richa Pandey^{1

2}, Ignazio S Piras^{1

2}, Meredith Sanchez-Castillo^{1

2}, Sampathkumar Rangasamy^{1

2}, Vinodh Narayanan^{1

2}, Matthew J Huentelman^{1

2

3}

Affiliations

¹ Translational Genomics Research Institute (TGen), Phoenix, Arizona.
² TGen's Center for Rare Childhood Disorders (C4RCD), Phoenix, Arizona.
³ School of Life Sciences, Arizona State University, Tempe, Arizona.

Abstract

Publication types

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

MeSH terms

Heterogeneous-Nuclear Ribonucleoprotein Group F-H
Humans
Intellectual Disability*
Male
Mental Retardation, X-Linked*
Mutation
Syndrome

Substances

HNRNPH2 protein, human
Heterogeneous-Nuclear Ribonucleoprotein Group F-H