IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

Autor: Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M.-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., Persani, L., Wit, J. M., Biermasz, N. R., Pereira, A. M., Oostdijk, W.
Přispěvatelé: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Other departments, Endocrinology, Paediatric Endocrinology
Jazyk: angličtina
Rok vydání: 2016
Zdroj: Journal of clinical endocrinology and metabolism, 101(4), 1627-1636. The Endocrine Society
ISSN: 0021-972X
Popis: Clinical and biochemical characteristics of 69 male patients and 56 female IGSF1 mutation carriers were collected, providing recommendations for mutational analysis, endocrine work-up, and long-term care
Databáze: OpenAIRE