A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome

Growth Hormone & IGF Research - Tập 44 - Trang 17-19 - 2019
Álvaro Martín-Rivada1, Francisco Javier Rodríguez-Contreras2, Mª. Teresa Muñoz-Calvo1,3, María Güemes1, Isabel González-Casado4, Jaime Sánchez del Pozo5, Ángel Campos-Barros2,6, Jesús Argente1,3,7,8
1Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute “La Princesa”, Madrid, Spain
2Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
3Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain
4Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain
5Pediatric Endocrinology and Dysmorphology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain
6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
7Universidad Autónoma de Madrid, Department of Pediatrics, Madrid, Spain
8IMDEA, Food Institute, CEIUAM+CSI, Crta. de Cantoblanco, 8, 28049 Cantoblanco, Madrid, Spain

Tài liệu tham khảo

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