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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913155/
https://www.ncbi.nlm.nih.gov/pubmed/31836590
http://dx.doi.org/10.1101/mcs.a004564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913155/
https://www.ncbi.nlm.nih.gov/pubmed/31836590
http://dx.doi.org/10.1101/mcs.a004564

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