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Article

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.

Cold Spring Harbor molecular case studies - 1 Dec 2019

Brodie Seth A, Rodriguez-Aulet Jean Paul, Giri Neelam, Dai Jieqiong, Steinberg Mia, Waterfall Joshua J, 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

Abstract excerpt

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 with TAR-like dysmorphology but lacking thrombocytopenia in infancy. Family NCI-107 participated in an IRB-approved...

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PMID: 31836590
DOI: 10.1101/mcs.a004564
PMCID: PMC6913155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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