Steatocystoma multiplex and oligosymptomatic pachyonychia congenita of the Jackson-Sertoli type
Détails
ID Serval
serval:BIB_97C1ACAF3FDE
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Steatocystoma multiplex and oligosymptomatic pachyonychia congenita of the Jackson-Sertoli type
Périodique
Dermatology
ISSN
1018-8665 (Print)
Statut éditorial
Publié
Date de publication
1997
Volume
195
Numéro
1
Pages
86-8
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Journal Article
Research Support, Non-U.S. Gov't
Résumé
A family with affected members, previously reported to carry an R94H mutation of keratin K17, and characterized by a variable and oligosymptomatic form of pachyonychia congenita of the Jackson-Sertoli type with steatocystoma multiplex, is described in detail.
Mots-clé
Adult
Epidermal Cyst/*genetics/pathology
Female
Humans
Keratins/genetics
Keratoderma, Palmoplantar/genetics/pathology
Male
Middle Aged
Mutation/genetics
Nail Diseases/*congenital/genetics/pathology
Pedigree
Phenotype
Skin Diseases/*genetics/pathology
Pubmed
Web of science
Création de la notice
25/01/2008 17:36
Dernière modification de la notice
20/08/2019 15:59
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