Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

BACKGROUND: Thrombocytopenia-absent radius syndrome (TAR; MIM 274000) is a rare autosomal recessive disorder combining specific skeletal abnormalities with a reduced platelet count. TAR syndrome has been associated with the compound inheritance of an interstitial microdeletion in 1q21.1 and a low fr...

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發表在:Mol Cytogenet
Main Authors: Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Lerone, Margherita, Vaccari, Carlotta, Puliti, Aldamaria, Gimelli, Giorgio
格式: Artigo
語言:Inglês
出版: BioMed Central 2015
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4635577/
https://ncbi.nlm.nih.gov/pubmed/26550033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0188-6
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