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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

Authors


Wiszniewski, W More by this author
Hunter, JV More by this author
Hanchard, NA More by this author
Willer, JR More by this author
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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
URN:
uuid:13b47f6c-e268-46a2-ab2a-b3ada0515c6e
Source identifiers:
419064
Local pid:
pubs:419064
Language:
English

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