Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.
Neurology
; 59(10): 1637-40, 2002 Nov 26.
Article
in En
| MEDLINE
| ID: mdl-12451214
ABSTRACT
A 48-year-old woman with late infantile onset mental retardation developed megacolon. Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a new 3-base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B. This suggests that screening for ZFHX1B mutations is warranted even in the absence of typical clinical features of the syndrome.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hirschsprung Disease
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Neurology
Year:
2002
Document type:
Article
Affiliation country:
Japan