High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders

The 2019 International Skeletal Dysplasia Society nosology update lists 441 genes for which mutations result in rare human skeletal disorders. These genes code for enzymes (33%), scaffolding proteins (18%), signal transduction proteins (16%), transcription factors (14%), cilia proteins (8%), extrace...

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Bibliographic Details

Published in:	Frontiers in Endocrinology
Main Authors:	Robert Brommage, Claes Ohlsson
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2020-02-01
Subjects:	skeletal dysplasia skeletome mouse models genetic disease nosology
Online Access:	https://www.frontiersin.org/article/10.3389/fendo.2019.00934/full