Associated Papers
Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2024
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.
Yan L et al.
Bmc Medical Genomics, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Pagnamenta AT et al.
Clinical Genetics, 2023
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
Sajan SA et al.
Journal of Medical Genetics, 2019
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