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Last Updated: 01/07/2026

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Found 230 publications

A Letter from the Mother of a Child with Jeune Syndrome: A Qualitative Analysis.

A Letter from the Mother of a Child with Jeune Syndrome: A Qualitative Analysis.

Journal: Clinical pediatrics
Published: December 12, 2025

Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.

Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.

Journal: Ophthalmic genetics
Published: August 13, 2025

Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.

Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.

Journal: International journal of medical informatics
Published: May 07, 2025

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

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

Journal: Turkish journal of ophthalmology
Published: January 30, 2025

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Journal: Interdisciplinary cardiovascular and thoracic surgery
Published: January 11, 2025

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.

Journal: Hereditas
Published: December 04, 2024

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Journal: Journal of medical genetics
Published: September 07, 2024

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.

Journal: Radiology case reports
Published: August 16, 2024

Surgical timing for asphyxiating thoracic dystrophy.

Surgical timing for asphyxiating thoracic dystrophy.

Journal: Interdisciplinary cardiovascular and thoracic surgery
Published: May 11, 2024

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.

Journal: Research square
Published: February 26, 2024

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.

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.

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
Showing 1-12 of 230

Last Updated: 01/07/2026