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1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
Thrombocytopenia-absent radii (TAR) syndrome, characterized by neonatal thrombocytopenia and bilateral radial aplasia with thumbs present, is typically caused by the inheritance of a 1q21.1 deletion and a single-nucelotide polymorphism in RBM8A on the nondeleted allele. We evaluated two siblings wit...
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| 出版年: | Cold Spring Harb Mol Case Stud |
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| 主要な著者: | , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Cold Spring Harbor Laboratory Press
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6913155/ https://ncbi.nlm.nih.gov/pubmed/31836590 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004564 |
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