Associated Papers
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
Aagaard Nolting L et al.
Clinical Genetics, 2024
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter VG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.
Zhao T et al.
Life Science Alliance, 2019
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Girisha KM et al.
Human Mutation, 2019
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