Case report of severe prenatal presentation of osteogenesis imperfecta caused by uncommon IFITM5 mutation

2021 ◽  
Vol 132 ◽  
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Beverly Coleman ◽  
Julie Moldenhauer ◽  
Nahla Khalek
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta

‘Double trouble': Duchenne muscular dystrophy and osteogenesis imperfecta in one patient - a case report

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Author(s):  
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Renata Taslerova ◽  
Lenka Mrazova ◽  
Lenka Fajkusova ◽  
Hana Oslejskova
Keyword(s):  
Case Report ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Osteogenesis Imperfecta

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

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Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
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Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V

scholarly journals Novel Pathogenic Mutation Identified in the COL1A2 Gene Presumably as a Cause of Osteogenesis Imperfecta: A Case Report and Literature Review

2016 ◽  
Vol 146 (suppl_1) ◽  
Author(s):  
Jose Scarpa Carniello ◽  
Chuanyong Lu ◽  
Jacqueline Skelton ◽  
Ning Chen ◽  
Alejandro Zuretti
Keyword(s):  
Case Report ◽  
Literature Review ◽  
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Pathogenic Mutation ◽  
Col1a2 Gene

Use of denosumab in osteogenesis imperfecta: A case report

2019 ◽  
Vol 26 (1) ◽  
pp. 68-73
Author(s):  
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Christian Ferro ◽  
Carlos Paredes ◽  
Carlos Ríos
Keyword(s):  
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Osteogenesis Imperfecta

scholarly journals Aortopulmonary Window in an Infant with Type I Osteogenesis Imperfecta: Case Report

2017 ◽  
Vol 03 (02) ◽  
Author(s):  
Vanessa Arnet ◽  
Sandra Pereira ◽  
Jefferson Magalhaes ◽  
Claudia Airoza ◽  
Tatiana Berg ◽  
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Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Type I ◽  
Aortopulmonary Window

scholarly journals Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature

2018 ◽  
Vol 6 (7) ◽  
pp. 1252-1257 ◽  
Author(s):  
Tetsuya Kawakita ◽  
Melissa Fries ◽  
Jasbir Singh ◽  
Huda B. Al-Kouatly
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Review Of Literature ◽  
Type Iii
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