Nasal speech in patients with 12q15 microdeletions
نویسندگان
چکیده
منابع مشابه
LAMP2 microdeletions in patients with Danon disease.
BACKGROUND Danon disease is an X-linked dominant disorder characterized by the clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and variable mental retardation. Pathologically, autophagic vacuoles are noted in both skeletal and cardiac muscle. It exhibits an X-linked dominant mode of inheritance, and male carriers are severely affected, whereas female carriers develop milder an...
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15 صفحه اولComparison of Sinonasal Symptoms in Patients with Nasal Septal Deviation and Patients with Chronic Rhinosinusitis
Introduction: Disorders of the nose and paranasal sinuses are among the most common chronic illnesses. Although considerable progress has been made in the medical and surgical control of these diseases, a large number of questions relating to the diagnosis, evaluation, and treatment of these conditions remain unanswered. The aim of the present study was to evaluate differences in the frequency ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.230