Associated Papers
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.
Petraroli M et al.
Frontiers in Endocrinology, 2023
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2020
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
Dehghan Tezerjani M et al.
Frontiers in Pediatrics, 2020
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