Acromesomelic Dysplasia Latest Advances
Find the Latest Research About Acromesomelic Dysplasia
Last Updated: 09/19/2026
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Found 929 publications
A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing.
Journal: Differentiation; research in biological diversity
Published: May 21, 2026
Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.
Journal: American journal of medical genetics. Part A
Published: May 14, 2026
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.
Journal: Journal of paediatrics and child health
Published: March 12, 2026
A truncated COL10A1 protein causes Schmid metaphyseal chondrodysplasia via protein downregulation and impairing α1 trimer formation and secretion.
Journal: Functional & integrative genomics
Published: March 06, 2026
A 12,000-Year-Old Case of NPR2-Related Acromesomelic Dysplasia.
Journal: The New England journal of medicine
Published: January 28, 2026
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.
Journal: QJM : monthly journal of the Association of Physicians
Published: October 20, 2025
Management of a geminated tooth and supernumeraries in a patient with Acromesomelic Dysplasia, Maroteaux type.
Journal: Journal of clinical orthodontics : JCO
Published: October 18, 2025
Fetal chondrodysplasia punctata: a clinical study of five cases.
Journal: American journal of translational research
Published: October 17, 2025
Last Updated: 09/19/2026