Novel Biallelic PISD Missense Variants Cause Spondyloepimetaphyseal Dysplasia with Disproportionate Short Stature and Fragmented Mitochondrial Morphology.
CLINICAL GENETICS（2024）
关键词
Liberfarb syndrome,mitochondrial dysfunction,phosphatidylserine decarboxylase,PISD,SEMD,spondyloepimetaphyseal dysplasia
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