Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5

British Journal of Dermatology

Volumn 158, Issue 6, 2008, Pages 1378-1380

  Badeloe, S ^a,b   Van Geel, M ^a,b   Nagtzaam, I ^a,b   Rubio Gozalbo, M E ^a   Oei, R L ^a,b   Steijlen, P M ^a,b   Van Steensel, M A M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

ABHD5; Chanarin Dorfman; Ichthyosis; Jordan's anomaly; Neutral lipid

Indexed keywords

ABHD5 GENE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHANARIN DORFMAN SYNDROME; CHROMOSOME 3P; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DRY SKIN; ERYTHEMA; ERYTHRODERMA; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; KERATODERMA; LAMELLAR ICHTHYOSIS; LETTER; LIPOLYSIS; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SKIN BIOPSY; SPLICEOSOME;

CHILD; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; HEPATOMEGALY; HUMANS; ICHTHYOSIS; LIPASE; LIPID METABOLISM, INBORN ERRORS; MALE; MUSCULAR DISEASES; MUTATION; PHENOTYPE; SYNDROME;

EID: 43749086828     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08544.x     Document Type: Letter

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