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  • EMBO Molecular Medicine: 8 (4)

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Research Article

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

Andrew Dauber, María T Muñoz‐Calvo, Vicente Barrios, Horacio M Domené, Soren Kloverpris, Clara Serra‐Juhé, Vardhini Desikan, Jesús Pozo, Radhika Muzumdar, Gabriel Á Martos‐Moreno, Federico Hawkins, Héctor G Jasper, Cheryl A Conover, Jan Frystyk, Shoshana Yakar, Vivian Hwa, Julie A Chowen, Claus Oxvig, Ron G Rosenfeld, Luis A Pérez‐Jurado, Jesús Argente
DOI 10.15252/emmm.201506106 | Published online 22.02.2016
EMBO Molecular Medicine (2016) 8, 363-374
Andrew Dauber
Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
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María T Muñoz‐Calvo
Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, SpainProgram of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
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Vicente Barrios
Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, SpainProgram of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
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Horacio M Domené
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
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Soren Kloverpris
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
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Clara Serra‐Juhé
Genetics Unit, Universitat Pompeu Fabra Hospital del Mar Research Institute (IMIM) & CIBERER. Instituto de Salud Carlos III, Barcelona, Spain
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Vardhini Desikan
Department of Pediatrics, Division of Pediatric Endocrinology, New York Medical College, Valhalla NY, USA
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Jesús Pozo
Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, SpainProgram of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
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Radhika Muzumdar
Division of Endocrinology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA
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Gabriel Á Martos‐Moreno
Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, SpainProgram of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
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Federico Hawkins
Department of Endocrinology, Hospital Universitario 12 de Octubre Universidad Complutense de Madrid, Madrid, Spain
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Héctor G Jasper
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
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Cheryl A Conover
Division of Endocrinology, Mayo Clinic, Rochester, MN, USA
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Jan Frystyk
Medical Research Laboratory, Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, DenmarkDepartment of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
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Shoshana Yakar
Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, NY, USA
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Vivian Hwa
Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
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Julie A Chowen
Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, SpainProgram of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
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Claus Oxvig
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
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Ron G Rosenfeld
Oregon Health and Science University, Portland, OR, USASTAT5 LLC, Los Altos, CA, USA
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Luis A Pérez‐Jurado
Genetics Unit, Universitat Pompeu Fabra Hospital del Mar Research Institute (IMIM) & CIBERER. Instituto de Salud Carlos III, Barcelona, Spain
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Jesús Argente
Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, SpainProgram of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
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Author Affiliations

  1. Andrew Dauber1,
  2. María T Muñoz‐Calvo2,3,
  3. Vicente Barrios2,3,
  4. Horacio M Domené4,
  5. Soren Kloverpris5,
  6. Clara Serra‐Juhé6,
  7. Vardhini Desikan7,
  8. Jesús Pozo2,3,
  9. Radhika Muzumdar8,
  10. Gabriel Á Martos‐Moreno2,3,
  11. Federico Hawkins9,
  12. Héctor G Jasper4,
  13. Cheryl A Conover10,
  14. Jan Frystyk11,12,
  15. Shoshana Yakar13,
  16. Vivian Hwa1,
  17. Julie A Chowen2,3,
  18. Claus Oxvig5,
  19. Ron G Rosenfeld14,15,
  20. Luis A Pérez‐Jurado6 and
  21. Jesús Argente*,2,3
  1. 1Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
  2. 2Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain
  3. 3Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
  4. 4Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
  5. 5Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
  6. 6Genetics Unit, Universitat Pompeu Fabra Hospital del Mar Research Institute (IMIM) & CIBERER. Instituto de Salud Carlos III, Barcelona, Spain
  7. 7Department of Pediatrics, Division of Pediatric Endocrinology, New York Medical College, Valhalla NY, USA
  8. 8Division of Endocrinology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA
  9. 9Department of Endocrinology, Hospital Universitario 12 de Octubre Universidad Complutense de Madrid, Madrid, Spain
  10. 10Division of Endocrinology, Mayo Clinic, Rochester, MN, USA
  11. 11Medical Research Laboratory, Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, Denmark
  12. 12Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
  13. 13Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, NY, USA
  14. 14Oregon Health and Science University, Portland, OR, USA
  15. 15STAT5 LLC, Los Altos, CA, USA
  1. ↵*Corresponding author. Tel: +34 91 5035912; Fax: +34 91 5035939; E‐mail: jesus.argente{at}uam.es
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Article Information

vol. 8 no. 4 363-374
DOI 
https://doi.org/10.15252/emmm.201506106
PubMed 
26902202
Print ISSN 
1757-4676
Online ISSN 
1757-4684
History 
  • Published online February 22, 2016.
  • Published in print April 1, 2016.
Review Process File

Author Information

  1. Andrew Dauber1,
  2. María T Muñoz‐Calvo2,3,
  3. Vicente Barrios2,3,
  4. Horacio M Domené4,
  5. Soren Kloverpris5,
  6. Clara Serra‐Juhé6,
  7. Vardhini Desikan7,
  8. Jesús Pozo2,3,
  9. Radhika Muzumdar8,
  10. Gabriel Á Martos‐Moreno2,3,
  11. Federico Hawkins9,
  12. Héctor G Jasper4,
  13. Cheryl A Conover10,
  14. Jan Frystyk11,12,
  15. Shoshana Yakar13,
  16. Vivian Hwa1,
  17. Julie A Chowen2,3,
  18. Claus Oxvig5,
  19. Ron G Rosenfeld14,15,
  20. Luis A Pérez‐Jurado6 and
  21. Jesús Argente*,2,3
  1. 1Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
  2. 2Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain
  3. 3Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain
  4. 4Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
  5. 5Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
  6. 6Genetics Unit, Universitat Pompeu Fabra Hospital del Mar Research Institute (IMIM) & CIBERER. Instituto de Salud Carlos III, Barcelona, Spain
  7. 7Department of Pediatrics, Division of Pediatric Endocrinology, New York Medical College, Valhalla NY, USA
  8. 8Division of Endocrinology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA
  9. 9Department of Endocrinology, Hospital Universitario 12 de Octubre Universidad Complutense de Madrid, Madrid, Spain
  10. 10Division of Endocrinology, Mayo Clinic, Rochester, MN, USA
  11. 11Medical Research Laboratory, Department of Clinical Medicine, Faculty of Health, Aarhus University, Aarhus, Denmark
  12. 12Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
  13. 13Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, NY, USA
  14. 14Oregon Health and Science University, Portland, OR, USA
  15. 15STAT5 LLC, Los Altos, CA, USA
  1. ↵*Corresponding author. Tel: +34 91 5035912; Fax: +34 91 5035939; E‐mail: jesus.argente{at}uam.es
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Volume 8, Issue 4
01 April 2016
EMBO Molecular Medicine: 8 (4)
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