Asphyxiating Thoracic Dystrophy Latest Advances

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).

Journal: Turkish journal of ophthalmology

Published: January 30, 2025

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Journal: Hereditas

Published: December 04, 2024

Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation.

Journal: Radiology case reports

Published: August 16, 2024

Surgical timing for asphyxiating thoracic dystrophy.

Journal: Interdisciplinary cardiovascular and thoracic surgery

Published: May 11, 2024

Ciliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery.

Journal: Molecular & cellular proteomics : MCP

Published: April 25, 2024

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Journal: Research square

Published: February 26, 2024

Epithelial Predominant Wilms Tumor in an Adult Patient: Case Report and Literature Review.

Journal: Journal of kidney cancer and VHL

Published: February 25, 2024

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Journal: American journal of medical genetics. Part A

Published: February 04, 2024

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Journal: NPJ genomic medicine

Published: January 17, 2024

A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

Journal: Klinische Padiatrie

Published: January 15, 2024

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.

Journal: International medical case reports journal

Published: October 31, 2023

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques.

Journal: Frontiers in pediatrics

Published: July 05, 2023

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Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation.

Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation.

Surgical timing for asphyxiating thoracic dystrophy.

Surgical timing for asphyxiating thoracic dystrophy.

Ciliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery.

Ciliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery.

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Epithelial Predominant Wilms Tumor in an Adult Patient: Case Report and Literature Review.

Epithelial Predominant Wilms Tumor in an Adult Patient: Case Report and Literature Review.

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques.

Case report: A simple and reliable approach for progressive internal distraction of the sternum for Jeune syndrome (asphyxiating thoracic dystrophy): preliminary experience and literature review of surgical techniques.