Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: Molecular testing as a helpful diagnostic tool for Netherton syndrome

Clinical and Experimental Dermatology

Volumn 29, Issue 5, 2004, Pages 513-517

  Sprecher, E ^a   Tesfaye Kedjela, A ^b   Ratajczak, P ^b   Bergman, R ^a   Richard, G ^b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; ELECTROLYTE DISTURBANCE; GENE; GENE MUTATION; HUMAN; INFECTION; MALE; NETHERTON DISEASE; PRIORITY JOURNAL; SPINK5 GENE; SYSTEMIC DISEASE;

ADULT; CARRIER PROTEINS; DERMATITIS, EXFOLIATIVE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; HAIR; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; ICHTHYOSIS; MALE; MUTATION; SYNDROME;

EID: 4644343851     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01589.x     Document Type: Article

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