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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發表在: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
格式: Artigo
語言:Inglês
出版: Endocrine Society 2017
主題:
Case Reports
在線閱讀: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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