Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

BACKGROUND: Shwachman–Diamond syndrome (SDS) is an autosomal recessive ribosomopathy caused mainly by compound heterozygous mutations in SBDS. Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed...

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Bibliographic Details
Main Authors: Carvalho, Claudia M B, Zuccherato, Luciana W, Williams, Christopher L, Neill, Nicholas J, Murdock, David R, Bainbridge, Matthew, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Ip, Wan, Guillerman, Robert Paul, Lupski, James R, Bertuch, Alison A
Format: Artigo
Language:Inglês
Published: BioMed Central 2014
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Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4057820/
https://ncbi.nlm.nih.gov/pubmed/24898207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-64
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