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Last Updated: 10/31/2025
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Found 1119 publications
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
X-linked dominant chondrodysplasia punctata (CDPX2): A rare case of male mosaicism with atypical dermatological manifestations.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: September 23, 2024
Last Updated: 10/31/2025