Abstract
Two brothers were found to have an unusual congenital syndrome of lymphedema, pulmonary lymphagiectasia, hypoparthyroidism, hereditary nephropathy, prolapsing mitral valve, and other somatic abnormalities.
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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Abnormalities, Multiple / genetics*
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Adult
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Female
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Fingers / abnormalities
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Genes, Recessive
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Genetic Linkage
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Humans
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Hypoparathyroidism / genetics*
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Kidney Diseases / genetics*
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Lymphedema / genetics*
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Male
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Mitral Valve Prolapse / genetics*
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Pedigree
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Syndrome
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X Chromosome