The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications...
The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis
About this item
Full title
Author / Creator
Sprecher, Eli , Amin, Shivan , Nielsen, Karl , Pfendner, Ellen , Uitto, Jouni , Richard, Gabriele , Chavanas, Stephane , DiGiovanna, John J. , Prendiville, Julie S. , Silverman, Robert , Esterly, Nancy B. , Spraker, Mary K. , Guelig, Ed , de Luna, Margharita Larralde , Williams, Mary L. , Buehler, Bruce , Siegfried, Elaine C. , Van Maldergem, Lionel , Bale, Sherri J. and Hovnanian, Alain
Publisher
Danvers, MA: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
Danvers, MA: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
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 t...
Alternative Titles
Full title
The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis
Authors, Artists and Contributors
Author / Creator
Amin, Shivan
Nielsen, Karl
Pfendner, Ellen
Uitto, Jouni
Richard, Gabriele
Chavanas, Stephane
DiGiovanna, John J.
Prendiville, Julie S.
Silverman, Robert
Esterly, Nancy B.
Spraker, Mary K.
Guelig, Ed
de Luna, Margharita Larralde
Williams, Mary L.
Buehler, Bruce
Siegfried, Elaine C.
Van Maldergem, Lionel
Bale, Sherri J.
Hovnanian, Alain
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_71100813
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71100813
Other Identifiers
ISSN
0022-202X
E-ISSN
1523-1747
DOI
10.1046/j.1523-1747.2001.01389.x
