Associated Papers
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano F et al.
International Journal of Molecular Sciences, 2023
A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
Liu H et al.
Molecular Genetics & Genomic Medicine, 2021
Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene.
Ghosh S et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 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
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
Piane M et al.
American Journal of Medical Genetics. Part A, 2009
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