Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients-Reference-Cited by-同舟云学术

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

Published:2012-12-13 Issue:1 Volume:50 Page:21-24
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Rauch Frank,Moffatt Pierre,Cheung Moira,Roughley Peter,Lalic Liljana,Lund Allan M,Ramirez Norman,Fahiminiya Somayyeh,Majewski Jacek,Glorieux Francis H

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 101 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. Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta;The Journal of Molecular Diagnostics;2024-09

2. Update on the Genetics of Osteogenesis Imperfecta;Calcified Tissue International;2024-08-11

3. The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect;Journal of Clinical Investigation;2024-06-17

4. Unraveling the Link of Altered TGFβ Signaling with Scoliotic Vertebral Malformations in Osteogenesis Imperfecta: A Comprehensive Review;Journal of Clinical Medicine;2024-06-14

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