Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes

A recurrent 16p12.1 microdeletion supports a two‐hit model for severe developmental delay Girirajan et al. (2010) Nature Genetics 42(3):203–209

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Bibliographic Details
Published in:Clinical genetics 2010-12, Vol.78 (6), p.517-519
Main Author: Kumar, RA
Format: Article
Language:English
Subjects:
Biological and medical sciences
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
genomics
Medical genetics
Medical sciences
Molecular and cellular biology
Neurodevelopmental disorders
Pediatrics
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Description
Summary:A recurrent 16p12.1 microdeletion supports a two‐hit model for severe developmental delay Girirajan et al. (2010) Nature Genetics 42(3):203–209
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2010.01530_1.x