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 |
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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: | 23 Nov 2023 08:00 |
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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Permanent URL: https://doi.org/10.5167/uzh-141825
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Authors, Affiliations, Collaborations
University of Zurich, Zurich, Switzerland
Mehiläinen Airport Health Center, Vantaa, Finland
Helsinki University Hospital, Helsinki, Finland
National Institute for Health and Welfare, Helsinki, Finland
University of Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland
University of Zurich, Zurich, Switzerland


University of Zurich, Zurich, Switzerland
Source of ORCID ID: Import from PubMed