Osteogenesis Imperfecta

Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI–XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from f...

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Detalles Bibliográficos
Autores principales: Sam, Justin Easow, Dharmalingam, Mala
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729682/
https://www.ncbi.nlm.nih.gov/pubmed/29285457
http://dx.doi.org/10.4103/ijem.IJEM_220_17
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author Sam, Justin Easow
Dharmalingam, Mala
author_facet Sam, Justin Easow
Dharmalingam, Mala
author_sort Sam, Justin Easow
collection PubMed
description Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI–XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts. The mainstay of treatment is bisphosphonate therapy. The prognosis is variable.
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spelling pubmed-57296822017-12-28 Osteogenesis Imperfecta Sam, Justin Easow Dharmalingam, Mala Indian J Endocrinol Metab Review Article Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI–XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts. The mainstay of treatment is bisphosphonate therapy. The prognosis is variable. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5729682/ /pubmed/29285457 http://dx.doi.org/10.4103/ijem.IJEM_220_17 Text en Copyright: © 2017 Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Review Article
Sam, Justin Easow
Dharmalingam, Mala
Osteogenesis Imperfecta
title Osteogenesis Imperfecta
title_full Osteogenesis Imperfecta
title_fullStr Osteogenesis Imperfecta
title_full_unstemmed Osteogenesis Imperfecta
title_short Osteogenesis Imperfecta
title_sort osteogenesis imperfecta
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729682/
https://www.ncbi.nlm.nih.gov/pubmed/29285457
http://dx.doi.org/10.4103/ijem.IJEM_220_17
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