نتایج جستجو برای: cornelia de lange syndrome
تعداد نتایج: 2119570 فیلتر نتایج به سال:
Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth...
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THE AIM The aim of the research work is the evaluation of auditory function in children with rare, genetically determined Brachmann-de Lange syndrome. METHODS Test material came from 18 children (7 girls and 11 boys) between 11 months and 18 years of age with Brachmann-de Lange syndrome who have been diagnosed and treated at ENT Department and Department of Paediatrics, Haematology, Oncology ...
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