Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

导出 OA

翻译打印收藏纠错

第一作者： Andrew,Dauber

第一单位： Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

作者： Andrew,Dauber ^[1] ; María T,Muñoz-Calvo ^[2] ; Vicente,Barrios ^[2] ; Horacio M,Domené ^[3] ; Soren,Kloverpris ^[4] ; Clara,Serra-Juhé ^[5] ; Vardhini,Desikan ^[6] ; Jesús,Pozo ^[2] ; Radhika,Muzumdar ^[7] ; Gabriel Á,Martos-Moreno ^[2] ; Federico,Hawkins ^[8] ; Héctor G,Jasper ^[3] ; Cheryl A,Conover ^[9] ; Jan,Frystyk ^[10] ; Shoshana,Yakar ^[11] ; Vivian,Hwa ^[1] ; Julie A,Chowen ^[2] ; Claus,Oxvig ^[4] ; Ron G,Rosenfeld ^[12] ; Luis A,Pérez-Jurado ^[5] ; Jesús,Argente ^[13]

作者单位： Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. ^[1] Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain. ^[2] Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina. ^[3] Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark. ^[4] Genetics Unit, Universitat Pompeu Fabra Hospital del Mar Research Institute (IMIM) & CIBERER. Instituto de Salud Carlos III, Barcelona, Spain. ^[5] Department of Pediatrics, Division of Pediatric Endocrinology, New York Medical College, Valhalla NY, USA. ^[6] Division of Endocrinology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA. ^[7] Department of Endocrinology, Hospital Universitario 12 de Octubre Universidad Complutense de Madrid, Madrid, Spain. ^[8] Division of Endocrinology, Mayo Clinic, Rochester, MN, USA. ^[9] Medical Research Laboratory, Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, Denmark Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. ^[10] Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, NY, USA. ^[11] Oregon Health and Science University, Portland, OR, USA STAT5 LLC, Los Altos, CA, USA. ^[12] Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain jesus.argente@uam.es. ^[13]

关键词 IGF bioavailability IGF‐binding proteins bone delayed growth growth hormone