Sjogren-Larsson syndrome

Sjö·gren-Lars·son syn·drome

(shōr'gren lar'sŏn), [MIM*270200] congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.

Sjö·gren-Lars·son syn·drome

Sjögren-Larsson syndrome

An autosomal recessive condition (OMIM:270200) characterised by ichthyosiform erythroderma, spastic paralysis, mental retardation, retinal degeneration, sparse and brittle hair, enamel hypoplasia, short stature, ocular hypertelorism and metaphyseal dysplasia.
Molecular pathology
Various mutations of ALDH2A2 on chromosome 17p11.2, which encodes fatty aldehyde dehydrogenase.

Larsson,

Tage Konrad Leopold, Swedish scientist, 1905–. Sjögren-Larsson syndrome - see under Sjögren, Karl Gustaf Torsten

Sjögren,

Karl Gustaf Torsten, Swedish physician, 1859-1939. Marinesco-Sjögren-Garland syndrome - see under MarinescoMarinesco-Sjögren syndrome - see under MarinescoSjögren syndrome - Synonym(s): Marinesco-Sjögren syndromeSjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndromeTorsten syndrome - Synonym(s): Marinesco-Sjögren syndrome

单词	sjogren-larsson syndrome
释义	Sjogren-Larsson syndrome Sjö·gren-Lars·son syn·drome (shōr'gren lar'sŏn), [MIM270200] congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p. Sjö·gren-Lars·son syn·drome (shōr'gren lar'sŏn), [MIM270200] congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p. Sjögren-Larsson syndrome An autosomal recessive condition (OMIM:270200) characterised by ichthyosiform erythroderma, spastic paralysis, mental retardation, retinal degeneration, sparse and brittle hair, enamel hypoplasia, short stature, ocular hypertelorism and metaphyseal dysplasia. Molecular pathology Various mutations of ALDH2A2 on chromosome 17p11.2, which encodes fatty aldehyde dehydrogenase. Larsson, Tage Konrad Leopold, Swedish scientist, 1905–. Sjögren-Larsson syndrome - see under Sjögren, Karl Gustaf Torsten Sjögren, Karl Gustaf Torsten, Swedish physician, 1859-1939. Marinesco-Sjögren-Garland syndrome - see under MarinescoMarinesco-Sjögren syndrome - see under MarinescoSjögren syndrome - Synonym(s): Marinesco-Sjögren syndromeSjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndromeTorsten syndrome - Synonym(s): Marinesco-Sjögren syndrome AcronymsSeeSLS
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