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Findings support ITGA10 as a novel candidate gene for inherited thrombocytopenia and suggest that disruption of the ITGA10-ITGB1 integrin complex may contribute to abnormal platelet homeostasis and cytoskeletal organization.
Background KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder caused by haploinsufficiency of ANKRD11 on chromosome 16q24.3. It is characterized by distinctive craniofacial features, macrodontia, short stature, skeletal anomalies, and neurodevelopmental impairment. Populations outside Western Europe and...
This nationwide study expands the genotype-phenotype spectrum of Sotos and Malan syndromes in Türkiye and supports improved diagnostic and clinical management strategies.
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