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


Zweier, Markus; Peippo, Maarit M; Pöyhönen, Minna; Kääriäinen, Helena; Begemann, Anaïs; Joset, Pascal; Oneda, Beatrice; Rauch, Anita (2017). The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. American Journal of Medical Genetics. Part A, 173(5):1440-1443.

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Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Uncontrolled Keywords:ARID1B; Coffin-Siris syndrome; HHID; abnormal corpus callosum; hyperkeratosis; hypertrichosis; intellectual disability; minor anomalies
Language:English
Date:May 2017
Deposited On:13 Nov 2017 15:28
Last Modified:19 Feb 2018 09:13
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1552-4825
OA Status:Hybrid
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1002/ajmg.a.38143
PubMed ID:28323383

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