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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research Article
Acesso em linha: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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