Abstract
A family with hereditary nephritis, sensorineural hearing loss, macrocephaly, and mental retardation is reported. X-linked recessive inheritance was suggested by the presence of two affected brothers and a maternal uncle. This association may be a previously unreported variant of Alport's syndrome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Genes, Recessive*
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Genetic Linkage
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Glomerulonephritis / microbiology
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Hearing Loss, Sensorineural / genetics
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Humans
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Infant, Newborn
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Intellectual Disability / etiology
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Intellectual Disability / genetics*
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Male
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Nephritis, Hereditary / complications
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Nephritis, Hereditary / genetics*
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Skull / abnormalities
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Streptococcal Infections / complications
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Streptococcus pyogenes
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X Chromosome / genetics*