Peters plus syndrome.
Indian J Pediatr
;
2008 Jun; 75(6): 635-7
Article
in English
| IMSEAR
| ID: sea-82991
ABSTRACT
A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The presence of a Peters' anomaly, mental retardation, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a homozygous deletion in the beta1,3-galactosyltransferase-like gene (B3GALTL), a recently identified gene.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Syndrome
/
Abnormalities, Multiple
/
Humans
/
Male
/
Child
/
Gene Deletion
/
Galactosyltransferases
/
India
/
Intellectual Disability
/
Mutation
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Pediatr
Year:
2008
Type:
Article
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