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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...
Zapisane w:
| Wydane w: | Mol Cytogenet |
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| Główni autorzy: | , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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