Nouvelle mutation du Fibroblast Growth Factor Receptor 1 (FGFR1)–cause d’hypogonadisme hypogonadotrope idiopathique normosmique
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چکیده
منابع مشابه
crouzon syndrome: a fibroblast growth factor receptor 2 gene mutation
crouzon syndrome is a rare autosomal dominant premature cranyosynostosis, caused by fibroblast growth factor receptor 2 gene mutation on chromosome 10. the predominant skull and facial malformations with potential compromise airway make the crouzon syndrome a demanding issue for anesthesiologists and surgeons, required dynamic team work. in this report we describe a child, a known case of crouz...
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Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various cranio...
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ژورنال
عنوان ژورنال: Annales d'Endocrinologie
سال: 2015
ISSN: 0003-4266
DOI: 10.1016/j.ando.2015.07.335