GERMLINE VARIANTS IN ETV6 UNDERLIE REDUCED PLATELET FORMATION, PLATELET DYSFUNCTION AND INCREASED LEVELS OF CIRCULATING CD34+ PROGENITORS

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy.We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five a

read more



Imposter Syndrome

This column will showcase different aspects of the journey from musical theatre professional to director of a rural DR.FORMULATED PROBIOTICS MOOD public library: how this came to be, findings of a library outsider, and recommendations for overcoming imposter syndrome.The author mentions the successes and failures she experienced in her first year a

read more