Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1) Latest Advances

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

Last Updated: 06/24/2026

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Found 505 publications

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

Zebrafish gon4la mutants recapitulate human GON4L-related growth disorders and reveal novel metabolic organs abnormalities.

Zebrafish gon4la mutants recapitulate human GON4L-related growth disorders and reveal novel metabolic organs abnormalities.

Journal: Scientific reports
Published: November 05, 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

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

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: August 17, 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

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

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Journal: Archives of Iranian medicine
Published: November 26, 2024
Showing 1-12 of 505

Last Updated: 06/24/2026