X-Linked Chondrodysplasia Punctata 2 Latest Advances

Find the Latest Research About X-Linked Chondrodysplasia Punctata 2

Last Updated: 09/26/2026

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Found 1132 publications

Novel PEX7 gene variant-associated rhizomelic chondrodysplasia punctata type 1: a clinico-radio-biochemical diagnosis.

Novel PEX7 gene variant-associated rhizomelic chondrodysplasia punctata type 1: a clinico-radio-biochemical diagnosis.

Journal: BMJ case reports
Published: May 22, 2026

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.

Journal: American journal of medical genetics. Part A
Published: May 15, 2026

Beyond the surface: plasmalogens are dispensable for retinal integrity and fertility in the mouse.

Beyond the surface: plasmalogens are dispensable for retinal integrity and fertility in the mouse.

Journal: Biochimie
Published: April 13, 2026

Neurogenic Shock Secondary to Atlantoaxial Subluxation in an Infant With Chondrodysplasia Punctata.

Neurogenic Shock Secondary to Atlantoaxial Subluxation in an Infant With Chondrodysplasia Punctata.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: March 30, 2026

A Male Infant With Chondrodysplasia Punctata Presenting With Apnea and Growth Faltering: A Case Report.

A Male Infant With Chondrodysplasia Punctata Presenting With Apnea and Growth Faltering: A Case Report.

Journal: Journal of paediatrics and child health
Published: March 12, 2026

Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.

Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.

Journal: The Laryngoscope
Published: January 08, 2026

Ultrasound for evaluation of atlantoaxial instability in neonates with chondrodysplasia punctata.

Ultrasound for evaluation of atlantoaxial instability in neonates with chondrodysplasia punctata.

Journal: Pediatrics and neonatology
Published: January 04, 2026

X-linked ARSL chondrodysplasia punctata: expanding the spectrum with a severe multisystem phenotype.

X-linked ARSL chondrodysplasia punctata: expanding the spectrum with a severe multisystem phenotype.

Journal: Case reports in perinatal medicine
Published: December 22, 2025

Neonatal X-linked recessive chondrodysplasia punctata.

Neonatal X-linked recessive chondrodysplasia punctata.

Journal: QJM : monthly journal of the Association of Physicians
Published: October 20, 2025

Fetal chondrodysplasia punctata: a clinical study of five cases.

Fetal chondrodysplasia punctata: a clinical study of five cases.

Journal: American journal of translational research
Published: October 17, 2025

Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease.

Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease.

Journal: Obstetric medicine
Published: September 28, 2025

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.

Journal: Biomolecules
Published: September 25, 2025
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Last Updated: 09/26/2026