ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype
Melania Eva Zanchetta,
Serena Barozzi,
Federica Isidori
et al.
Abstract:SummaryACTN1‐related thrombocytopenia is a rare disorder caused by heterozygous variants in the ACTN1 gene characterized by macrothrombocytopenia and mild bleeding tendency. We describe for the first time two patients affected with ACTN1‐RT caused by a homozygous variant in ACTN1 (c.982G>A) with mild heart valve defects unexplained by any other genetic variants investigated by WES. Within the reported family, the homozygous sisters have moderate thrombocytopenia and marked platelet macrocytosis with giant p… Show more
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