Asphyxiating Thoracic Dystrophy Latest Advances
Find the Latest Research About Asphyxiating Thoracic Dystrophy
Last Updated: 06/30/2026
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Found 231 publications
A rare cause of neonatal respiratory distress: Jeune syndrome.
Journal: Radiology case reports
Published: March 08, 2026
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.
Journal: Ophthalmic genetics
Published: August 13, 2025
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)
Journal: Turkish journal of ophthalmology
Published: January 30, 2025
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.
Journal: Hereditas
Published: December 04, 2024
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.
Journal: Radiology case reports
Published: August 16, 2024
Surgical timing for asphyxiating thoracic dystrophy.
Journal: Interdisciplinary cardiovascular and thoracic surgery
Published: May 11, 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
Last Updated: 06/30/2026