MSX1 mutation in witkop syndrome: a case report
IJMS-Iranian Journal of Medical Sciences. 2013; 38 (2): 191-194
in English
| IMEMR
| ID: emr-181050
ABSTRACT
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3'-UTR of MSX1 gene in the proband. The parents of the patient had no dental and nail anomalies
Search on Google
Index:
IMEMR (Eastern Mediterranean)
Language:
English
Journal:
Iran. J. Med. Sci.
Year:
2013
Similar
MEDLINE
...
LILACS
LIS