Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients

被引:0
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作者
Cohen, Enzo [1 ]
Belkacem, Sabrina [1 ]
Fedala, Soumeya [2 ]
Collot, Nathalie [1 ]
Khallouf, Eliane [3 ]
Dastot, Florence [1 ]
Polak, Michel [4 ]
Duquesnoy, Philippe [1 ]
Brioude, Frederic [5 ]
Rose, Sophie [1 ]
Viot, Geraldine [6 ]
Soleyan, Aude [1 ]
Carel, Jean-Claude [7 ]
Sobrier, Marie-Laure [1 ]
Chanson, Philippe [8 ,9 ,10 ]
Gatelais, Frederique [11 ]
Heinrichs, Claudine [12 ]
Kaffel, Noureddine [13 ]
Coutant, Regis [11 ]
Erdeve, Senay Savas [14 ]
Aycan, Zehra [14 ]
Thalassinos, Caroline [4 ]
Lyonnet, Stanislas [15 ,16 ]
Siklar, Zeynep [17 ]
Berberoglu, Merih [17 ]
Brachet, Cecile [12 ]
Amselem, Serge [1 ]
Legendre, Marie [1 ]
机构
[1] Sorbonne Univ, Hop Trousseau, AP HP, INSERM UMR S933,Dept Genet, Paris, France
[2] CHU Bab El Oued, Hop Lamine Debaghine, Bab El Oued, Algeria
[3] Hotel Dieu France, Endocrinol & Diabetol Pediat, Beirut, Lebanon
[4] Hop Necker Enfants Malad, Serv Endocrinol Pediat, Paris, France
[5] Hop Trousseau, Explorat Fonct Endocriniennes, Paris, France
[6] CHU Paris Ctr, AP HP, Matern Port Royal, Unite Diagnost Antenatal & Med Foetale, Paris, France
[7] Hop Robert Debre, Serv Endocrinol Pediat, Paris, France
[8] Hop Bicetre, Serv Endocrinol & Malad Reprod, Le Kremlin Bicetre, France
[9] Ctr References Malad Rares Hypophyse, Le Kremlin Bicetre, France
[10] Univ Paris Saclay, Univ Paris Sud, Fac Med Paris Sud, UMR S1885, Le Kremlin Bicetre, France
[11] CHU Angers, Dept Endocrinol Diabetol & Nutr, Angers, France
[12] Hop Univ Enfants Reine Fabiola, Serv Endocrinol, Brussels, Belgium
[13] Dar Attabib, Complexe Med Multidisciplinaire, Endocrinol, Sfax, Tunisia
[14] Hlth Sci Univ, Hlth Implementat & Res Ctr, Dr Sami Ulus Obstet & Gynecol, Childrens Hlth & Dis, Ankara, Turkey
[15] Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malad, AP HP, Dept Genet, Paris, France
[16] Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malad, AP HP, Inst Imagine, Paris, France
[17] Ankara Univ, Dept Pediat Endocrinol, Sch Med, Ankara, Turkey
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中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
FC9.2
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页码:54 / 55
页数:2
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