Article
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
The Journal of investigative dermatology - 1 Aug 2001
Sprecher E, Chavanas S, DiGiovanna J J, Amin S, Nielsen K, Prendiville J S, Silverman R, Esterly N B, Spraker M K, Guelig E, de Luna M L, Williams M L, Buehler B, Siegfried E C, Van Maldergem L, Pfendner E, Bale S J, Uitto J, Hovnanian A, Richard G
Abstract excerpt
The Comèl-Netherton syndrome is an autosomal recessive multisystemic disorder characterized by localized or generalized congenital ichthyosis, hair shaft abnormalities, immune deficiency, and markedly elevated IgE levels. Life-threatening complications during infancy include temperature and electrolyte imbalance, recurrent infections, and failure to thrive. To study the clinical presentations of the...
Topics
- Adolescent
- Adult
- Carrier Proteins
- Child
- Child, Preschool
- Codon, Nonsense
- DNA Mutational Analysis
- DNA Primers
- Dermatitis, Atopic