A gene map of congenital malformations.
J Med Genet
; 31(7): 507-17, 1994 Jul.
Article
en En
| MEDLINE
| ID: mdl-7966186
ABSTRACT
Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Congénitas
/
Mapeo Cromosómico
/
Errores Innatos del Metabolismo
Límite:
Humans
Idioma:
En
Revista:
J Med Genet
Año:
1994
Tipo del documento:
Article
País de afiliación:
Reino Unido