نتایج جستجو برای: cornelia de lange syndrome

تعداد نتایج: 2119570  

Journal: :Journal of Anaesthesiology Clinical Pharmacology 2015

Journal: :Japanese Journal of Oral & Maxillofacial Surgery 1987

Journal: :European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry 2008
M G Guadagni N Cetrullo G Piana

Cornelia de Lange Syndrome (CdLS) is a very rare syndrome characterised by multiple congenital anomaly affecting various organs and severe mental retardation. Incidence has been reported to be 1: 10.000-20.000 among the general population, with no racial predilection. The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which i...

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