Clin. Genet..2019 08;96(2):183-185. doi: 10.1111/cge.13580.Epub 2019-06-24.
X-linked, syndromic mental retardationを有する2人の男性が、HNRNPH2のde novo変異を有する
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
- Wayne M Jepsen
- Keri Ramsey
- Szabolcs Szelinger
- Lorida Llaci
- Chris Balak
- Newell Belnap
- Cherae Bilagody
- Matthew De Both
- Raj Gupta
- Marcus Naymik
- Richa Pandey
- Ignazio S Piras
- Meredith Sanchez-Castillo
- Sampathkumar Rangasamy
- Vinodh Narayanan
- Matthew J Huentelman
PMID: 31236915 PMCID: PMC6852257. DOI: 10.1111/cge.13580.
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