Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
Clin Dermatol
; 23(1): 33-40, 2005.
Article
en En
| MEDLINE
| ID: mdl-15708287
ABSTRACT
Epidermolysis bullosa, a clinically and genetically diverse group of heritable mechanobullous disorders characterized by skin fragility in the cutaneous basement membrane zone, has become a prototype for the recent progress in molecular genetics of genodermatoses. The different forms of epidermolysis bullosa have been linked to mutations in no less than 10 distinct genes encoding the major structural basement membrane zone proteins. This information has formed a basis for refined molecular classification with prognostic implications, improved genetic counseling, and prenatal and preimplantation genetic diagnosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Epidermólisis Ampollosa
/
Predisposición Genética a la Enfermedad
/
Queratinas
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Clin Dermatol
Año:
2005
Tipo del documento:
Article
País de afiliación:
Estados Unidos