Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1) Latest Advances

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.

Journal: Journal of medical genetics

Published: December 27, 2024

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.

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.

Journal: Archives of Iranian medicine

Published: November 26, 2024

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Journal: Medicina (Kaunas, Lithuania)

Published: October 22, 2024

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

CDK4 loss-of-function mutations cause microcephaly and short stature.

Journal: Genes & development

Published: September 20, 2024

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case

Journal: Problemy endokrinologii

Published: September 11, 2024

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

Journal: International journal of clinical pediatric dentistry

Published: August 26, 2024

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.

Journal: The Journal of experimental medicine

Published: August 12, 2024

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Journal: EBioMedicine

Published: July 09, 2024

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Puberty With Microcephalic Osteodysplastic Primordial Dwarfism Type II.

Puberty With Microcephalic Osteodysplastic Primordial Dwarfism Type II.

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.

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.

MCM5 UFMylation regulates replication origin firing and fork progression.

MCM5 UFMylation regulates replication origin firing and fork progression.

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.

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 loss-of-function mutations cause microcephaly and short stature.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.