PRKAR1AandPDE4DMutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Author:

Linglart Agnès123,Fryssira Helena4,Hiort Olaf5,Holterhus Paul-Martin6,Perez de Nanclares Guiomar7,Argente Jesús8,Heinrichs Claudine9,Kuechler Alma10,Mantovani Giovanna11,Leheup Bruno12,Wicart Philippe13,Chassot Virginie14,Schmidt Dorothée5,Rubio-Cabezas Óscar8,Richter-Unruh Annette15,Berrade Sara16,Pereda Arrate7,Boros Emese9,Muñoz-Calvo Maria Teresa8,Castori Marco17,Gunes Yasemin1,Bertrand Guylene18,Bougnères Pierre12,Clauser Eric19,Silve Caroline13

Affiliation:

1. Institut National de la Santé et de la Recherche Médicale Unité 986 (A.L., Y.G., P.B., C.S.), F-94726 Le Kremlin Bicêtre, France

2. Service d'Endocrinologie Pediatrique (A.L., P.B.), F-94726 Le Kremlin Bicêtre, France

3. et Centre de Référence des Maladies Rares du Métabolisme Phospho-Calcique (A.L., C.S.), Hôpital Bicêtre, F-94726 Le Kremlin Bicêtre, France

4. Department of Medical Genetics (H.F.), Children's Hospital “Aghia Sophia,” 11527 Athens, Greece

5. Hormonzentrum für Kinder und Jugendliche Klinik für Kinder und Jugendmedizin Universitätsklinikum S (O.H., D.S.), Campus Lübeck Ratzeburger, D-23538 Lübeck, Germany

6. Department of Pediatrics (P.-M.H.), E-01009 Vitoria-Gasteiz, Spain

7. Division of Pediatric Endocrinology and Diabetes; Molecular (Epi)genetics Lab (G.P.d.N., A.P.), Universitario Araba, E-01009 Vitoria-Gasteiz, Spain

8. Hospital Infantil Universitario Niño Jesús (J.A., O.R.-C., M.T.M.-C.), Department of Endocrinology, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Centro de Investigación Biomédica en Red (CIBER) de Obesidad y Nutrición, Instituto de Salud Carlos III, E-28029 Madrid, Spain

9. Unité d'Endocrinologie Pédiatrique (C.H., E.B.), Hôpital Universitaire des Enfants Reine Fabiola, 15-1020 Bruxelles, Belgium

10. Institut fuer Humangenetik (A.K.), Universitaetsklinikum Essen, D-45122 Essen, Germany

11. Endocrinology Unit (G.M.), Department of Clinical Sciences and Community Care, Fondazione Istituto di Ricovero e Cura a Ca' Granda Ospedale Maggiore Policlinico, University of Milan, I-20122 Milan, Italy

12. Service de Médecine Infantile III et Génétique Clinique (B.L.), Pôle Enfants, Centre Hospitalier Universitaire de Nancy, Université de Lorraine, F-54506 Vandoeuvre les Nancy, France

13. Chirurgie Orthopédique et Traumatologie Pediatrique (P.W.), Hopital Necker Enfants Malades, F-75015 Paris, France

14. Service de Pédiatrie CHT Gaston Bourret (V.C.), F-98800 Noumea, Nouvelle Caledonie, France

15. Pädiatrische Endokrinologin und Diabetologin (A.R.-U.), Zentrum für Hormon und Stoffwechselerkrankungen, D-44866 Bochum, Germany

16. Pediatric Endocrinology (S.B.), Hospital Virgen del Camino, E-31008 Pamplona, Spain

17. Division of Medical Genetics (M.C.), Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, I-00152 Rome, Italy

18. Laboratoire de Biochimie Hormonale et Génétique (G.B.), Hôpital Bichat Claude Bernard, F-75018 Paris, France

19. Laboratoire d'Oncogénétique (E.C.), Hôpital Cochin, F-75014 Paris, France

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference42 articles.

1. Acrodysplasias;Giedion,1973

2. Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing.;Reiter;Pediatr Radiol,1978

3. [Acrodysostosis].;Maroteaux;Presse Med,1968

4. Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.;Robinow;Am J Dis Child,1971

5. Zapfenepiphysen. Naturgeschichte und diagnostische Bedeutung einer Störung des enchondralen Wachstums.;Giedion;Ergebn Radiol,1968

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