Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping

Netherton syndrome (NS [MIM 256500]) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic manifestations. Infants with this syndrome often fail to thrive; life-threatening complications result in...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Chavanas, Stéphane, Garner, Chad, Bodemer, Christine, Ali, Mohsin, Teillac, Dominique Hamel-, Wilkinson, John, Bonafé, Jean-Louis, Paradisi, Mauro, Kelsell, David P., Ansai, Shin-ichi, Mitsuhashi, Yoshihiko, Larrègue, Marc, Leigh, Irene M., Harper, John I., Taïeb, Alain, Prost, Yves de, Cardon, Lon R., Hovnanian, Alain
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2000
Soggetti:
Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288172/
https://ncbi.nlm.nih.gov/pubmed/10712206
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi