Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.
Cardiol Young
; 26(1): 164-7, 2016 Jan.
Article
em En
| MEDLINE
| ID: mdl-25613755
ABSTRACT
We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient's sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação ao Cálcio
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Síndrome de Alagille
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Peptídeos e Proteínas de Sinalização Intercelular
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Proteínas de Membrana
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Mutação
Limite:
Adult
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Child
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Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Cardiol Young
Ano de publicação:
2016
Tipo de documento:
Article