Campomelic dysplasia
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Orthopedics and Sports Medicine,Pediatrics, Perinatology and Child Health
Reference15 articles.
1. .Le syndrome campomelique.;Maroteaux;Presse Med,1971
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3. . SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse.;Ng;Dev Biol,1997
4. Campomelic dysplasia: evidence of autosomal dominant inheritance.;Lynch;J Med Genet,1993
5. A clinical and genetic study of campomelic dysplasia.;Mansour;J Med Genet,1995
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1. Deformity of the Thorax and Pelvis: Thorax;Prenatal Diagnosis of Fetal Osteopathologies;2024
2. Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report;Frontiers in Pediatrics;2022-11-18
3. Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion;Frontiers in Genetics;2022-08-29
4. Dysplasias in the Child’s Spine;Neurosurgery Clinics of North America;2022-01
5. A Review of campomelic dysplasia syndrome;Journal of Physics: Conference Series;2021-07-01
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