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Article

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.

International journal of molecular sciences - 25 Aug 2022

Monteiro Catarina, Gonçalves Ana, Oliveira Jorge, Salvado Ramon, Tomaz Jorge, Morais Sara, Lima Margarida, Santos Rosário

Abstract excerpt

Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital disorder characterized by the bilateral absence of the radius and thrombocytopenia, and sometimes by other skeletal, gastrointestinal, cardiac, and renal abnormalities. The underlying genetic defect is usually the compound inheritance of a microdeletion in 1q21.1 (null allele) and a low-frequency, non-coding single nucleotide variant (SNV) in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36077017
DOI: 10.3390/ijms23179621
PMCID: PMC9455669

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Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.PMID 36077017Read ↗

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