Branchio-oculo-facial syndrome.
Indian J Pediatr
; 2005 Aug; 72(8): 701-3
Article
em En
| IMSEAR
| ID: sea-82707
ABSTRACT
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.
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Assunto principal:
Fenótipo
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Feminino
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Humanos
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Masculino
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Criança
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Adolescente
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Síndrome Brânquio-Otorrenal
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Genes Dominantes
Idioma:
En
Revista:
Indian J Pediatr
Ano de publicação:
2005
Tipo de documento:
Article