Journal article
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
- Abstract:
-
White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when observed, often occur with comorbid neuroinflammatory or vasculitic processes. Here, we describe a complex 4 kb deletion in 2q36.3 that segregates with early childhood communication disorders and WMH in 15 unrelated families predominantly from Southeast Asia. The premature brain aging phenotype with punctate and multifocal WMHs was observed in ...
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- Publisher copy:
- 10.1016/j.ajhg.2013.05.027
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Authors
Bibliographic Details
- Journal:
- American Journal of Human Genetics
- Volume:
- 93
- Issue:
- 2
- Pages:
- 197-210
- Publication date:
- 2013-08-08
- DOI:
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- Source identifiers:
-
419064
Item Description
- Language:
- English
- Pubs id:
-
pubs:419064
- UUID:
-
uuid:13b47f6c-e268-46a2-ab2a-b3ada0515c6e
- Local pid:
- pubs:419064
- Deposit date:
- 2013-11-16
Terms of use
- Copyright date:
- 2013
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