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 |
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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 |
Permanent URL
https://doi.org/10.5167/uzh-141825Download
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