Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.
Indian J Pediatr
;
2010 Feb; 77(2): 208-209
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Maladies du rachis
/
Syndrome
/
Malformations multiples
/
Humains
/
Mâle
/
Nouveau-né
/
Maladies vestibulaires
/
Maladies du système nerveux central
/
Colobome
/
Atrésie des choanes
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2010
Type:
Article
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