Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern a...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Tatsi, Christina, Gkourogianni, Alexandra, Mohnike, Klaus, DeArment, Diana, Witchel, Selma, Andrade, Anenisia C., Markello, Thomas C., Baron, Jeffrey, Nilsson, Ola, Jee, Youn Hee
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5686699/
https://ncbi.nlm.nih.gov/pubmed/29264551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2017-00229
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