Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of thePCNTgene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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1. Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II;International Journal of Molecular Sciences;2023-07-31
2. Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size;Cells;2023-07-07
3. 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;Frontiers in Endocrinology;2023-05-10
4. The missing link between genetic association and regulatory function;eLife;2022-12-14
5. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II;Molecular Genetics & Genomic Medicine;2021-07-31
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