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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Detalles Bibliográficos
Autores principales: Tatsi, Christina, Gkourogianni, Alexandra, Mohnike, Klaus, DeArment, Diana, Witchel, Selma, Andrade, Anenisia C., Markello, Thomas C., Baron, Jeffrey, Nilsson, Ola, Jee, Youn Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686699/
https://www.ncbi.nlm.nih.gov/pubmed/29264551
http://dx.doi.org/10.1210/js.2017-00229

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