Associated Papers
Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.
Guddeti A et al.
Jcem Case Reports, 2026
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
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