Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta-Reference-Cited by-同舟云学术

Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

Published:2020-04-14 Issue:8 Volume:35 Page:1470-1480
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Dubail Johanne¹,Brunelle Perrine¹,Baujat Geneviève¹,Huber Céline¹,Doyard Mathilde¹,Michot Caroline¹,Chavassieux Pascale²^ORCID,Khairouni Abdeslam³,Topouchian Vicken⁴,Monnot Sophie¹,Koumakis Eugénie¹⁵,Cormier‐Daire Valérie¹^ORCID

Affiliation:

1. Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases INSERM U1163, Université de Paris, Imagine Institute, Necker‐Enfants Malades Hospital, AP‐HP F‐75015 Paris France

2. INSERM UMR 1033, Université de Lyon Lyon France

3. Pediatric Orthopedics Casablanca Morocco

4. Pediatrics Orthopedics Department, Necker‐Enfants Malade Hospital Paris Descartes University, Assistance Publique‐Hôpitaux de Paris Paris France

5. Rheumatology Department, Cochin Hospital AP‐HP Centre‐Paris University, Reference Center for Rare Genetic Bone Disorders‐Cochin‐Constitutive Site Paris France

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4011

Reference29 articles.

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3. Erratum: Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

4. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients

5. New perspectives on osteogenesis imperfecta

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