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Advances in Skeletal Dysplasia Genetics

Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorde...

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Detalhes bibliográficos
Publicado no:Annu Rev Genomics Hum Genet
Main Authors: Geister, Krista A., Camper, Sally A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5507692/
https://ncbi.nlm.nih.gov/pubmed/25939055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1146/annurev-genom-090314-045904
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