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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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Bibliografske podrobnosti
izdano v:Indian J Endocrinol Metab
Main Authors: Sam, Justin Easow, Dharmalingam, Mala
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729682/
https://ncbi.nlm.nih.gov/pubmed/29285457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijem.IJEM_220_17
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