Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

Author:

Cohen Enzo1ORCID,Belkacem Sabrina1,Fedala Soumeya2,Collot Nathalie1,Khallouf Eliane3,Dastot Florence1,Polak Michel4,Duquesnoy Philippe1ORCID,Brioude Frederic5,Rose Sophie1,Viot Géraldine6,Soleyan Aude1,Carel Jean‐Claude7ORCID,Sobrier Marie‐Laure1ORCID,Chanson Philippe89ORCID,Gatelais Frédérique10,Heinrichs Claudine11,Kaffel Noureddine12ORCID,Coutant Regis10,Savaş Erdeve Şenay13ORCID,Kurnaz Erdal13ORCID,Aycan Zehra13,Thalassinos Caroline4,Lyonnet Stanislas14,Şıklar Zeynep15,Berberoglu Merih15,Brachet Cécile11ORCID,Amselem Serge1,Legendre Marie1ORCID

Affiliation:

1. Genetic Department, INSERM UMR_S933 Hôpital Trousseau, Sorbonne Université, AP‐HP Paris France

2. Endocrinology Department Hôpital Lamine Debaghine CHU Bab El Oued Bab El Oued Algeria

3. Pediatric Endocrinology and Diabetology Hôtel Dieu de France Beyrouth Lebanon

4. Pediatric Endocrinology Department Hôpital Necker, AP‐HP Paris France

5. Endocrine Investigation Department Hôpital Trousseau, AP‐HP Paris France

6. Prenatal Diagnosis and Foetal Medicine Unit CHU Paris Centre, AP‐HP Paris France

7. Pediatric Endocrinology Department Hôpital Robert Debré, AP‐HP Paris France

8. Endocrinology and Reproductive Medicine Department and Rare Pituitary Disorder Reference Center Hôpital de Bicêtre, AP‐HP Le Kremlin‐Bicêtre France

9. UMR_S1885, Faculté de Médecine Paris‐Sud, Univ Paris Sud Université Paris‐Saclay Le Kremlin‐Bicêtre France

10. Diabetology and Nutrition Unit CHU d'Angers Angers France

11. Endocrinology Department Hôpital Universitaire des Enfants Reine Fabiola Brussels Belgium

12. Endocrinology Department Dar Attabib, Complexe Médical Multidisciplinaire Sfax Tunisia

13. Clinic of Pediatric Endocrinology, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease, Health Implementation and Research Center Health Sciences University Ankara Turkey

14. Genetics Department and Institut Imagine Paris Descartes‐Sorbonne Paris Cité University Paris France

15. Department of Pediatric Endocrinology Medical School of Ankara University Ankara Turkey

Funder

Fondation pour la Recherche Médicale

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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