Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 01/07/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1120 publications
Neonatal X-linked recessive chondrodysplasia punctata.
Journal: QJM : monthly journal of the Association of Physicians
Published: October 20, 2025
A diagnostic and management odyssey of a rare case of rhizomelic chondrodysplasia punctata.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: August 25, 2025
Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.
Journal: Cureus
Published: August 24, 2025
Conradi-Hünermann-Happle syndrome with adult onset of typical erythema.
Journal: European journal of dermatology : EJD
Published: July 31, 2025
Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.
Journal: Indian journal of pediatrics
Published: July 19, 2025
Molecular insights into the comorbidity of vitamin K-dependent clotting factor deficiency and chondrodysplasia punctata.
Journal: Journal of thrombosis and haemostasis : JTH
Published: May 08, 2025
X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.
Journal: Medicine
Published: April 07, 2025
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis.
Journal: The application of clinical genetics
Published: January 16, 2025
Balloon angioplasty for bilateral severe peripheral pulmonary artery stenoses associated with chondrodysplasia punctata: a case report.
Journal: Cardiology in the young
Published: November 21, 2024
Last Updated: 01/07/2026