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.
Statistics
Citations
Dimensions.ai Metrics
Altmetrics
Downloads
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: | 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 |
Download
- Content: Published Version
- Language: English
- Licence:
Zweier, Markus