A platelet disorder in which the cause of the disease is a variant in the TPM4 gene. [ http://www.ncbi.nlm.nih.gov/pubmed/34758189 https://orcid.org/0000-0001-6964-7302 https://clinicalgenome.org/affiliation/40028/ http://www.ncbi.nlm.nih.gov/pubmed/28134622 ]
Synonyms: TPM4-related platelet dysfunction with or without thrombocytopenia TPM4-related platelet disorder
Term information
rare, nord_rare, clingen