An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family

British Journal of Dermatology

Volumn 164, Issue 6, 2011, Pages 1390-1392

  Samuelov, L ^a   Fuchs Telem, D ^a,b   Sarig, O ^a   Sprecher, E ^a,b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ABHD 5 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOACCUMULATION; CASE REPORT; CHANARIN DORFMAN SYNDROME; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; EXON; FEMALE; GENE; GENE INSERTION; GENODERMATOSIS; GENOTYPE; HUMAN; ICHTHYOSIS; INFANT; INTRON; METABOLIC DISORDER; MICROSATELLITE MARKER; PRIORITY JOURNAL; RNA SPLICING; SYMPTOM;

1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE; CONSANGUINITY; EXONS; FEMALE; HOMOZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; INFANT; LIPID METABOLISM, INBORN ERRORS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MALE; MICROSATELLITE REPEATS; MUSCULAR DISEASES; MUTAGENESIS, INSERTIONAL; MUTATION;

EID: 79957607882     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10252.x     Document Type: Article

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