510 A Novel Myh7 Variant Identified in a Child with Restrictive Cardiomyopathy
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چکیده
منابع مشابه
A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report
BACKGROUND The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene. CASE PRESENTATION A 5-year-old Saudi boy presented with a histo...
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Restrictive cardiomyopathy (RCM) is a myocardial disorder that usually results from increased myocardial stiffness that leads to impaired ventricular filling. Biventricular chamber size and systolic function are usually normal or nearnormal until later stages of the disease. Affecting either or both ventricles, RCM may cause signs or symptoms of left or right heart failure. Arrhythmias and cond...
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Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2012
ISSN: 0003-9888,1468-2044
DOI: 10.1136/archdischild-2012-302724.0510