Publications by authors named "Enaam A Suliman"
Article Synopsis
- - Macrothrompocytopenia (MTP) is a rare hereditary disorder caused by genetic mutations that affect blood clotting, primarily due to dysfunction in megakaryocytes, which are crucial for platelet production
- - The DIAPH1 gene plays a significant role in this disorder, with variants leading to macrothrombocytopenia and associated conditions like sensorineural deafness; different mutations result in varying symptoms including seizures and microcephaly in more severe cases
- - A case study of a 14-year-old Saudi girl highlighted a novel mutation (c.3633_3636del) in the DIAPH1 gene, suggesting its potential link to both MTP and autosomal dominant non-syndromic
