ISSN:1308-5727 E-ISSN:1308-5735

Case Report

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
  • Nidhi Gupta
  • Seth W. Gregory
  • David R. Deyle
  • Peter J. Tebben
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2020.0012 PMID:32519829
Abstract
A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
  • Sol Kang
  • Young Kyung Kang
  • Jun Ah Lee
  • Dong Ho Kim
  • Jung Sub Lim
J Clin Res Pediatr Endocrinol 2019; 11: 439-443 DOI: 10.4274/jcrpe.galenos.2019.2018.0229 PMID:30759959
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Latest Update: 13.04.2021
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