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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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Publication status:
Published

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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:
2013-08-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:46644b93-43b2-43a6-a225-7044e86c1a7a
Source identifiers:
409875
Local pid:
pubs:409875

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