Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP-Reference-Cited by-同舟云学术

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Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP

Published:2022-11 Issue: Volume:164 Page:116516
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Marulanda Juliana,Ludwig Karissa,Glorieux Francis,Lee Brendan,Sutton V. Reid,Retrouvey Jean-Marc,Rauch Frank

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference32 articles.

1. Osteogenesis imperfecta;Forlino;Lancet,2016

2. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum;Bardai;Osteoporos. Int.,2016

3. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006

4. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease;Ward;Bone,2002

5. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N. Engl. J. Med.,2006

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta;Calcified Tissue International;2024-08-21

2. Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches;ACS Pharmacology & Translational Science;2024-01-02

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