Article
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
The Journal of clinical endocrinology and metabolism - 1 Feb 2017
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, Pruhová Štepánka, Elblova Lenka, Quintos Jose Bernardo, Segerlund Emma, Sentchordi Lucia, Shinawi Marwan, Stattin Eva-Lena, Swartz Jonathan, Angel Ariadna González Del, Cuéllar Sinhué Diaz, Hosono Hidekazu, Sanchez-Lara Pedro A, Hwa Vivian, Baron Jeffrey, Nilsson Ola, Dauber Andrew
Abstract excerpt
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 females, 46 males) from 20 families with autosomal dominant short stature and heterozygous ACAN mutations were...
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