Ichthyosis and neutral lipid storage disease

Four members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique di...

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Veröffentlicht in:	American journal of medical genetics 1985-04, Vol.20 (4), p.711-726
Hauptverfasser:	Williams, Mary L., Koch, Thomas K., O'Donnell, James J., Frost, Philip H., Epstein, Lois B., Grizzard, W. Sanderson, Epstein, Charles J., Opitz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent autosomal recessive inheritance Biological and medical sciences carrier detection carrier manifestations Cataract - genetics cataracts Child Complex syndromes Consanguinity deafness Deafness - genetics Female Genes, Recessive Genetic Carrier Screening Humans ichthyosis Ichthyosis - genetics ichthyosis, deafness leukocyte vacuoles Leukocytes - ultrastructure Lipid Metabolism, Inborn Errors - genetics lipid storage disease Male Medical genetics Medical sciences Middle Aged Muscular Diseases - genetics Pedigree Syndrome Vacuoles - ultrastructure
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