No abstract available
Keywords:
Cardiomyopathy; Child; Congenital nephrotic syndrome (CNF); Mitochondrial disorder; NPHS1 mutation.
MeSH terms
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Adolescent
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Biopsy
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Cardiomyopathy, Dilated / diagnosis
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Cardiomyopathy, Dilated / genetics
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Cardiomyopathy, Dilated / therapy
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Child
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Child, Preschool
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Deafness / diagnosis
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Deafness / genetics
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Genetic Testing / methods*
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High-Throughput Nucleotide Sequencing
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Humans
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Infant
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Infant, Newborn
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Introns / genetics
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Kidney / pathology
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Longitudinal Studies
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Male
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Membrane Proteins / genetics*
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Mitochondrial Diseases / complications
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Mitochondrial Diseases / congenital
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Mitochondrial Diseases / diagnosis*
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Mitochondrial Diseases / genetics
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Mutation
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Nephrotic Syndrome / complications
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Nephrotic Syndrome / diagnosis*
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Nephrotic Syndrome / genetics
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Nephrotic Syndrome / therapy
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Renal Insufficiency, Chronic / etiology
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Renal Insufficiency, Chronic / therapy
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Young Adult
Substances
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Membrane Proteins
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nephrin