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The genetic cause of neurodevelopmental disorders in 30 consanguineous families

30 Aug 2024

Abstract excerpt

Objective This study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs). Methods We conducted clinical, genetic, biochemical, and molecular analyses on 30 consanguineous families with NDDs enrolled from various regions of Pakistan. The likely molecular causes of primary...

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PMID: 39281811
DOI: 10.3389/fmed.2024.1424753

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