Cranioectodermal Dysplasia Latest Advances

Find the Latest Research About Cranioectodermal Dysplasia

Last Updated: 06/30/2026

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Found 72 publications

Clinical characteristics and genetic analysis of a case of ciliopathy caused by novel WDR19 gene variants

Clinical characteristics and genetic analysis of a case of ciliopathy caused by novel WDR19 gene variants

Journal: Zhonghua nei ke za zhi

Published: April 06, 2026

Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family.

Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family.

Journal: Molecular genetics & genomic medicine

Published: January 19, 2026

IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient.

IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient.

Journal: Molecular syndromology

Published: December 10, 2025

Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Journal: Pediatric research

Published: June 30, 2025

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Journal: Diagnostics (Basel, Switzerland)

Published: May 11, 2025

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

Journal: European journal of human genetics : EJHG

Published: January 26, 2025

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Journal: Prenatal diagnosis

Published: January 18, 2025

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Journal: Diagnostics (Basel, Switzerland)

Published: October 11, 2024

Syndromic retinitis pigmentosa.

Syndromic retinitis pigmentosa.

Journal: Progress in retinal and eye research

Published: July 17, 2024

Sequential Liver-Kidney Transplant for Cranioectodermal Dysplasia.

Sequential Liver-Kidney Transplant for Cranioectodermal Dysplasia.

Journal: Pediatric transplantation

Published: December 17, 2023

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.

Journal: Congenital anomalies

Published: November 07, 2023

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.

Journal: Frontiers in molecular biosciences

Published: August 30, 2023

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Last Updated: 06/30/2026