The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

Am J Med Genet A 2017 May 21;173(5):1440-1443. Epub 2017 Mar 21.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.38143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413807PMC
May 2017
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