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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Gepubliceerd in:J Clin Endocrinol Metab
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Endocrine Society 2016
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Clinical Research Articles
Online toegang: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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