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.

Additional indexing

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
Scopus Subject Areas:	Life Sciences > Genetics Health Sciences > Genetics (clinical)
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:	18 May 2025 03:34
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