Navigation auf zora.uzh.ch

Search ZORA

ZORA (Zurich Open Repository and Archive)

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
Download PDF  'The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B'.
Preview
  • Content: Published Version
  • Language: English
  • Licence: Creative Commons: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Metadata Export

Statistics

Citations

Dimensions.ai Metrics
10 citations in Web of Science®
10 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

57 downloads since deposited on 13 Nov 2017
4 downloads since 12 months
Detailed statistics

Authors, Affiliations, Collaborations

Similar Publications