Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3
Authors
Keywords
Perrault syndrome type 3, Brain atrophy, Whole-exome sequencing, Novel homozygous mutation, CLPP, Saudi Arabia
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