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Last Updated: 03/06/2025
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Found 890 publications
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
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
Antenatal unilateral upper limb acromesomelic dysplasia.
Journal: Journal of ultrasound
Published: May 19, 2024
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.
Journal: Prenatal diagnosis
Published: April 04, 2024
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.
Journal: Molecular genetics & genomic medicine
Published: March 18, 2024
Autophagy activated by GR/miR-421-3p/mTOR pathway as a compensatory mechanism participates in chondrodysplasia induced by prenatal caffeine exposure in male fetal rats.
Journal: Toxicology letters
Published: January 19, 2024
Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: November 07, 2023
Last Updated: 03/06/2025