Neurofibromatosis with fully expressed Noonan syndrome.
Am J Med Genet
; 29(4): 937-41, 1988 Apr.
Article
en En
| MEDLINE
| ID: mdl-3135755
ABSTRACT
We present an 18-year-old man with neurofibromatosis (NF) and classic manifestations of the Noonan syndrome (NS), including the cardiac findings. His father also has neurofibromatosis but only some of the characteristics of Noonan syndrome. This case lends further support to the notion that the neurofibromatosis-Noonan syndrome (NF-NS) is a discrete entity and demonstrates that the NF-NS can be inherited, with variable expression of the Noonan phenotype within a family.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Neurofibromatosis 1
/
Síndrome de Noonan
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1988
Tipo del documento:
Article