title: MSX1 mutation in witkop syndrome; a case report.
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.
authors.affiliation: Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran;
authors.forename: Faezeh
authors.initials: F
authors.lastname: Ghaderi
authors.forename: Somaye
authors.initials: S
authors.lastname: Hekmat
authors.forename: Reza
authors.initials: R
authors.lastname: Ghaderi
authors.forename: Majid
authors.initials: M
authors.lastname: Fardaei
keywords: MSX1; Nail dysplasia; Witkop syndrome
references.citation: Development. 1991 Oct;113(2):601-11
references.pmid: 1685989
references.citation: Dermatol Online J. 2012 Jun 15;18(6):2
references.pmid: 22747926
references.citation: Dermatol Online J. 1999 May;5(1):3
references.pmid: 10673446
references.citation: Am J Hum Genet. 2001 Jul;69(1):67-74
references.pmid: 11369996
references.citation: J Dent Res. 2006 Jun;85(6):542-6
references.pmid: 16723652
references.citation: Int J Paediatr Dent. 2005 Sep;15(5):364-9
references.pmid: 16129001
references.citation: Oral Surg Oral Med Oral Pathol. 1974 Apr;37(4):576-82
references.pmid: 4521949
references.citation: Trends Genet. 1995 Oct;11(10):405-11
references.pmid: 7482767
references.citation: J Med Genet. 1996 Aug;33(8):707-10
references.pmid: 8863167
references.citation: Nat Genet. 1996 Aug;13(4):417-21
references.pmid: 8696335
references.citation: Oral Surg Oral Med Oral Pathol. 1975 Mar;39(3):409-23
references.pmid: 1054139
references.citation: Nat Genet. 2000 Apr;24(4):342-3
references.pmid: 10742093
references.citation: Int J Paediatr Dent. 2006 May;16(3):213-7
references.pmid: 16643544
references.citation: Angle Orthod. 2008 Mar;78(2):370-80
references.pmid: 18251614