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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 ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2013.05.027

Authors


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Name:
R01 NS058529/NINDS NIH HHS
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Name:
R01-HL091771/NHLBI NIH HHS
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Name:
U54 HG006542/NHGRI NIH HHS
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Name:
K23 NS078056/NINDS NIH HHS
Publisher:
Elsevier
Journal:
American journal of human genetics More from this journal
Volume:
93
Issue:
2
Pages:
197-210
Publication date:
2013-06-27
Acceptance date:
2013-05-30
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pmid:
23810381
Language:
English
Keywords:
Pubs id:
pubs:409875
UUID:
uuid:e6ebc2f9-1532-4403-9b43-884f57de59f1
Local pid:
pubs:409875
Source identifiers:
409875
Deposit date:
2017-04-26

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