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Skeletal dysplasias and related conditions 

Skeletal dysplasias and related conditions
Chapter:
Skeletal dysplasias and related conditions
Author(s):

Roger Smith

and Paul Wordsworth

DOI:
10.1093/med/9780199607990.003.0010
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date: 30 September 2020

Skeletal dysplasias comprise numerous chondrodysplasias and other rare disorders due to mutations in collagen and non-collagen genes affecting the development of bone and cartilage. They include achondrodysplasia (FGFR3 mutation), spondyloepiphyseal dysplasias, multiple epiphyseal dysplasias.

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