Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.
Indian J Pediatr
;
2010 Feb; 77(2): 208-209
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Spinal Diseases
/
Syndrome
/
Abnormalities, Multiple
/
Humans
/
Male
/
Infant, Newborn
/
Vestibular Diseases
/
Central Nervous System Diseases
/
Coloboma
/
Choanal Atresia
Language:
English
Journal:
Indian J Pediatr
Year:
2010
Type:
Article
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