Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2) Latest Advances

Find the Latest Research About Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2)

Last Updated: 09/19/2026

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Found 512 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

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Journal: Prenatal diagnosis
Published: May 07, 2026

Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring CEP152 Variants.

Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring CEP152 Variants.

Journal: Cells
Published: May 06, 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

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

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Journal: Orphanet journal of rare diseases
Published: September 10, 2025

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement.

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement.

Journal: American journal of medical genetics. Part A
Published: June 20, 2025
Showing 1-12 of 512

Last Updated: 09/19/2026