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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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書誌詳細
出版年:Cold Spring Harb Mol Case Stud
主要な著者: Brodie, Seth A., Rodriguez-Aulet, Jean Paul, Giri, Neelam, Dai, Jieqiong, Steinberg, Mia, Waterfall, Joshua P., Roberson, David, Ballew, Bari J., Zhou, Weiyin, Anzick, Sarah L., Jiang, Yuan, Wang, Yonghong, Zhu, Yuelin J., Meltzer, Paul S., Boland, Joseph, Alter, Blanche P., Savage, Sharon A.
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory Press 2019
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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