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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Abstract:

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identifie...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.1172/jci.insight.87623

Authors


Girisha, KM More by this author
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Publisher:
American Society for Clinical Investigation Publisher's website
Journal:
JCI Insight Journal website
Volume:
1
Issue:
9
Publication date:
2016-06-16
Acceptance date:
2016-05-17
DOI:
ISSN:
2379-3708
Pubs id:
pubs:645798
URN:
uri:044d410a-7ef6-4428-80de-8430ad4bfc90
UUID:
uuid:044d410a-7ef6-4428-80de-8430ad4bfc90
Local pid:
pubs:645798
Language:
English
Keywords:

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