Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1) Latest Advances

Find the Latest Research About Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1)

Last Updated: 06/30/2026

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Found 506 publications

A MOPD II-associated Pericentrin variant disrupts PACT domain dimerization and pericentriolar material recruitment.

A MOPD II-associated Pericentrin variant disrupts PACT domain dimerization and pericentriolar material recruitment.

Journal: bioRxiv : the preprint server for biology
Published: May 18, 2026

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 01, 2026

Two Siblings With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) Caused by Compound Heterozygous Pericentrin (PCNT) Gene Variants.

Two Siblings With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) Caused by Compound Heterozygous Pericentrin (PCNT) Gene Variants.

Journal: Cureus
Published: December 23, 2025

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics
Published: December 18, 2025

Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.

Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.

Journal: AME case reports
Published: October 31, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 01, 2025

ST-Elevation Myocardial Infarction (STEMI) in a Morphologically Pediatric Adult With Seckel Syndrome: A Report of a Rare Case.

ST-Elevation Myocardial Infarction (STEMI) in a Morphologically Pediatric Adult With Seckel Syndrome: A Report of a Rare Case.

Journal: Cureus
Published: September 29, 2025

Puberty With Microcephalic Osteodysplastic Primordial Dwarfism Type II.

Puberty With Microcephalic Osteodysplastic Primordial Dwarfism Type II.

Journal: American journal of medical genetics. Part A
Published: April 24, 2025

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Journal: Nature
Published: April 24, 2025

Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.

Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.

Journal: Journal of medical genetics
Published: December 27, 2024

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Journal: European journal of human genetics : EJHG
Published: December 05, 2024

MCM5 UFMylation regulates replication origin firing and fork progression.

MCM5 UFMylation regulates replication origin firing and fork progression.

Journal: The EMBO journal
Published: December 04, 2024
Showing 1-12 of 506

Last Updated: 06/30/2026