Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

BACKGROUND: Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication i...

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Main Authors: Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G
Format: Text
Language:English
Published: BioMed Central 2008
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Research
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC2408925/
https://pubmed.ncbi.nlm.nih.gov/18471269
http://dx.doi.org/10.1186/1755-8166-1-8
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https://pmc.ncbi.nlm.nih.gov/articles/PMC2408925/
https://pubmed.ncbi.nlm.nih.gov/18471269
http://dx.doi.org/10.1186/1755-8166-1-8

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