Cornelia De Lange Syndrome and Representation
| العنوان: | Cornelia De Lange Syndrome and Representation |
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| المؤلفون: | J. Ghaffari, M.D, V.Ghaffari, M.D, M.R. Faribourzi, M.D |
| المصدر: | Journal of Mazandaran University of Medical Sciences, Vol 17, Iss 60, Pp 116-121 (2007) |
| بيانات النشر: | Mazandaran University of Medical Sciences, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | lcsh:R5-920, lcsh:R, lcsh:Medicine, Syndrome, Growth retardation, lcsh:Medicine (General), Cornelia De Lange |
| الوصف: | Cornelia De Lange is a rare congenital syndrome with multiple anomalies including; Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two forms including dominant autosomal and is X linked. Often mutations are NIPBL and SMC1L1. The aim of this paper is to show a case of Cornelia De Lange syndrome. |
| اللغة: | English |
| تدمد: | 1735-9279 1735-9260 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doajarticles::6fbe7c1993ba306d6594ad7875dde9bf https://doaj.org/article/dde9dd36dd454254acb9fe682229fc57 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doajarticles..6fbe7c1993ba306d6594ad7875dde9bf |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17359279 17359260 |
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