A nonsense mutation in MSX1 causes Witkop syndrome

D Jumlongras, M Bei, JM Stimson, WF Wang… - The American Journal of …, 2001 - cell.com
… To find out whether nail development in Msx1 mutant mice was affected, we analyzed the
distal limbs of E16.5 and E18.5 wild-type and Msx1 knockout embryos. In E16.5 wild-type …

[HTML][HTML] MSX1 mutation in witkop syndrome; a case report

F Ghaderi, S Hekmat, R Ghaderi… - Iranian Journal of …, 2013 - ncbi.nlm.nih.gov
… has not been reported in any case report of the Witkop syndrome yet. We were, therefore, …
of Coffin-Lowry syndrome. Our next differential diagnosis was the Witkop syndrome in light of …

[PDF][PDF] MSX1 gene in the etiology orofacial deformities.

A Paradowska-Stolarz - Advances in Hygiene & Experimental …, 2015 - phmd.hirszfeld.pl
… The MSX1 mutation is observed in Pierre-Robin sequence. The mutations may lead to Witkop
syndrome or Wolf-Hirschorn syndrome. Further research is required to establish the exact …

Witkop Syndrome

A Heidari, M Farshbafnadi - … Syndromes: A Comprehensive Reference …, 2023 - Springer
… A nonsense mutation in the MSX1 gene with an autosomal dominant pattern … syndrome
(Hudson and Witkop 1975; Jumlongras et al. 2001; Altug-Atac and Iseri 2008). MSX1 mutations

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations

J Liang, J Von den Hoff, J Lange, Y Ren… - European Journal of …, 2016 - nature.com
… gene can also cause syndromic forms of tooth agenesis, including Wolf-Hirschhorn syndrome,
Witkop syndrome, and tooth agenesis combined with orofacial clefting (Table 3). The Wolf-…

Witkop tooth and nail syndrome: a case report

S Devadas, B Varma, J Mungara… - … Journal of Paediatric …, 2005 - Wiley Online Library
Mutation in MSX-1 has been shown to be associated with Witkop syndrome. This MSX is
recognized to … Des mutations en MSX-1 ont été identifiées dans le syndrome dent et ongle de …

214 Atlas of Genodermatoses

EVAN CREVELD-WEYERS - Atlas of Genodermatoses, 2005 - books.google.com
Mutations in the MSX1 gene result in Witkop's disease. The MSX1 gene is also mutated in
familial tooth agenesis with or without cleft lip/palate, demonstrating that the MSX1 gene is …

Review of Scientific Articles

G Sivakumar, B Kavitha, V Priyadharshini… - Journal of Oral and …, 2007 - journals.lww.com
… the presence of an Msx1 mutation. In contrast, patients with Pax9 mutations typically show
… to spot the gene and the type of mutation responsible for Witkop syndrome which led to the …

Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth

E Pawlowska, K Janik-Papis… - The Tohoku Journal of …, 2009 - jstage.jst.go.jp
mutations, such as missense or frame-shift mutations, have been reported to be associated
with tooth agenesis. In the present study, we sequenced the MSX1 … -frame of the MSX1 gene, …

[引用][C] The role of Msx1 in development

MJ van den Boogaard - MSX1 in relation to clefting, hypodontia and …, 2012