Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
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Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.
Strauss G, Mott K, Klopocki E, Schulze H.
Hamostaseologie. 2023 Aug;43(4):252-260. doi: 10.1055/a-2088-1801. Epub 2023 Aug 23.
PMID:37611607
Thrombocytopenia Absent Radius Syndrome.
Petit F, Boussion S.
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