Journal article
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
- Abstract:
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Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with HUWE1 variants, consisting of 14 females and 7 males, with...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Accepted manuscript, tiff, 533.0KB)
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(Accepted manuscript, tiff, 478.7KB)
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- Publisher copy:
- 10.1038/s41431-017-0038-6
Authors
Funding
+ Wellcome Trust
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Funding agency for:
Wilkie, A
Grant:
Senior Investigator Award (102731
+ Instituto de Salud Carlos III
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Grant:
PI14/00350 /Acción
Estratégica en Salud 2013-2016
FEDER -Fondo Europeo de Desarrollo Regional
Institut de Recherche Scientifique en Pathologie et Génétique
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Bibliographic Details
- Publisher:
- Springer Nature Publisher's website
- Journal:
- European Journal of Human Genetics Journal website
- Volume:
- 26
- Pages:
- 64–74
- Publication date:
- 2017-11-27
- Acceptance date:
- 2017-09-10
- DOI:
- ISSN:
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1476-5438
Item Description
- Pubs id:
-
pubs:729237
- UUID:
-
uuid:6ec021fe-43a3-4eb9-8359-199206c6a7b9
- Local pid:
- pubs:729237
- Source identifiers:
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729237
- Deposit date:
- 2017-09-18
Terms of use
- Copyright holder:
- Moortgat et al
- Copyright date:
- 2017
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from Springer Nature at: https://doi.org/10.1038/s41431-017-0038-6
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