Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

CONTEXT: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. OBJECTIVE: We sought to characterize the phenotypic spectrum and response to growth-promoting therapies. PATIENTS AND METHODS: One hundred three individuals (57 fe...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Gkourogianni, Alexandra, Andrew, Melissa, Tyzinski, Leah, Crocker, Melissa, Douglas, Jessica, Dunbar, Nancy, Fairchild, Jan, Funari, Mariana F. A., Heath, Karen E., Jorge, Alexander A. L., Kurtzman, Tracey, LaFranchi, Stephen, Lalani, Seema, Lebl, Jan, Lin, Yuezhen, Los, Evan, Newbern, Dorothee, Nowak, Catherine, Olson, Micah, Popovic, Jadranka, Průhová, Štěpánka, Elblova, Lenka, Quintos, Jose Bernardo, Segerlund, Emma, Sentchordi, Lucia, Shinawi, Marwan, Stattin, Eva-Lena, Swartz, Jonathan, del Angel, Ariadna González, Cuéllar, Sinhué Diaz, Hosono, Hidekazu, Sanchez-Lara, Pedro A., Hwa, Vivian, Baron, Jeffrey, Nilsson, Ola, Dauber, Andrew
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2016
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413162/
https://ncbi.nlm.nih.gov/pubmed/27870580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3313
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