Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5

Dermatology

Volumn 210, Issue 4, 2005, Pages 308-314

  Geyer, Adam S ^a   Ratajczak, Paulina ^c   Pol Rodriguez, Marlyanne ^a   Millar, William S ^b   Garzon, Maria ^a   Richard, Gabriele ^c  

^a NewYork Presbyterian Hospital   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Exfoliative erythroderma; Failure to thrive; Netherton syndrome; Peeling skin syndrome; Serine protease inhibitor

Indexed keywords

ARTICLE; BRAIN DEVELOPMENT; CARIBBEAN ISLANDS; CASE REPORT; CLINICAL FEATURE; CODON; DIFFUSION WEIGHTED IMAGING; DNA SEQUENCE; EXON; FAILURE TO THRIVE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; INFANT; MALE; NETHERTON DISEASE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SKIN ABRASION; SPINK5 GENE;

BIOPSY, NEEDLE; DNA MUTATIONAL ANALYSIS; FAILURE TO THRIVE; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HAIR DISEASES; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; IMMUNOHISTOCHEMISTRY; INFANT; MAGNETIC RESONANCE IMAGING; MALE; POLYMERASE CHAIN REACTION; SERINE PROTEINASE INHIBITORS; SEVERITY OF ILLNESS INDEX; SYNDROME;

EID: 22144440516     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000084755     Document Type: Article

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