Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.
Indian J Pediatr
;
2010 Feb; 77(2): 208-209
Artigo
em Inglês
| IMSEAR
| ID: sea-142505
ABSTRACT
The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Doenças da Coluna Vertebral
/
Síndrome
/
Anormalidades Múltiplas
/
Humanos
/
Masculino
/
Recém-Nascido
/
Doenças Vestibulares
/
Doenças do Sistema Nervoso Central
/
Coloboma
/
Atresia das Cóanas
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2010
Tipo de documento:
Artigo
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