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Last Updated: 04/25/2025
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Found 899 publications
X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.
Journal: Medicine
Published: April 07, 2025
A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype.
Journal: Molecular genetics and metabolism reports
Published: December 07, 2024
Jansen's disease: bone abnormalities beyond chondrodysplasia.
Journal: The Journal of clinical endocrinology and metabolism
Published: November 22, 2024
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
Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: September 25, 2024
Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: September 25, 2024
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs Syndrome.
Journal: Molecular genetics & genomic medicine
Published: September 15, 2024
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
Journal: JBMR plus
Published: July 18, 2024
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Journal: BMC medical genomics
Published: July 16, 2024
Last Updated: 04/25/2025