Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
Clinical genetics（2024）
Abstract
A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.
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Key words
CLPP,deafness,developmental delay,ovarian dysgenesis,Perrault syndrome
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