Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5
- Author
- GEYER, Adam S1 ; RATAJCZAK, Paulina2 ; POL-RODRIGUEZ, Marlyanne1 ; MILLAR, William S3 ; GARZON, Maria1 4 ; RICHARD, Gabriele2
[1] Department of Dermatology, Columbia University Medical Center, New York, NY, United States
[2] Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pa, United States
[3] Department of Radiology, Columbia University, New York, N.Y, United States
[4] Department of Pediatrics, Columbia University Medical Center, New York, NY, United States - Source
Dermatology (Basel). 2005, Vol 210, Num 4, pp 308-314, 7 p ; ref : 45 ref
- ISSN
- 1018-8665
- Scientific domain
- Dermatology
- Publisher
- Karger, Basel
- Publication country
- Switzerland
- Document type
- Article
- Language
- English
- Author keyword
- Exfoliative erythroderma Failure to thrive Netherton syndrome Peeling skin syndrome Serine protease inhibitor
- Keyword (fr)
- Dermatologie Desquamation familiale continue Erythrodermie ichtyosiforme Netherton Etude cas Etude familiale Homme Homozygotie Inhibiteur protease Mutation cadre lecture Serine endopeptidases Dyskératose Enzyme Hydrolases Hyperkératose Maladie héréditaire Peau pathologie Peptidases
- Keyword (en)
- Dermatology Peeling skin syndrome Netherton syndrome Case study Family study Human Homozygosity Protease inhibitor Frameshift mutation Serine endopeptidases Dyskeratosis Enzyme Hydrolases Hyperkeratosis Genetic disease Skin disease Peptidases
- Keyword (es)
- Dermatología Descamación familiar Eritrodermia ictiosiforme Netherton Estudio caso Estudio familiar Hombre Homocigosis Inhibidor proteasa Mutación frameshift Serine endopeptidases Disqueratosis Enzima Hydrolases Hiperqueratosis Enfermedad hereditaria Piel patología Peptidases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08I Dyskeratosis
- Discipline
- Dermatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16797046
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1159/000084755 
https://dx.doi.org/10.1159/000084755
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