A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder - Abdel‐Salam - 2011 - American Journal of Medical Genetics Part
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II - ScienceDirect
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder - Abdel‐Salam - 2011 - American Journal of Medical Genetics Part
Microcephalic osteodysplastic primordial dwarfism type 1 | BMJ Case Reports
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. - Abstract - Europe PMC
Frontiers | A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
Genetics for the pediatric endocrinologists – 2 Primordial short stature in children and adolescents - Journal of Pediatric Endocrinology and Diabetes
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst - ScienceDirect
Phenotypic traits of patients with microcephalic osteodysplastic... | Download Scientific Diagram
IJMS | Free Full-Text | Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II | Semantic Scholar
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science
Microcephalic osteodysplastic primordial dwarfism type 1 | BMJ Case Reports
Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I | Science
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II - ScienceDirect
Characteristic features of MOPDII. a Patient 1. A 7-week-old female... | Download Scientific Diagram
Frontiers | A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
PDF) Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): A Potential Role of Pericentrin in Hematopoiesis
Identification of RNU4ATAC mutations in MOPD I patients. (A)... | Download Scientific Diagram
Genes | Free Full-Text | Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder - Abdel‐Salam - 2011 - American Journal of Medical Genetics Part
A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II - Liu - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Microcephalic osteodysplastic primordial dwarfism type II: MedlinePlus Genetics
Primordial Dwarfism: Life Expectancy, Pictures, Symptoms, Types, More
