Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome
P Yeetong, C Mahatumarat, P Siriwan… - American Journal of …, 2009 - Wiley Online Library
Van der Woude syndrome (VWS, OMIM 119300) is the most common oral cleft syndrome
characterized by pits and/or sinuses of the lower lip, cleft lip with or without cleft palate, and
hypodontia [Van der Woude, 1954; Schinzel and Klausler, 1986]. It is inherited in an
autosomal dominant manner with a high degree of penetrance and variable expressivity
[Shprintzen et al., 1980; Lacombe et al., 1995]. VWS is caused by mutations in the interferon
regulatory factor 6 (IRF6) gene [Kondo et al., 2002]. This gene is also responsible for the …
characterized by pits and/or sinuses of the lower lip, cleft lip with or without cleft palate, and
hypodontia [Van der Woude, 1954; Schinzel and Klausler, 1986]. It is inherited in an
autosomal dominant manner with a high degree of penetrance and variable expressivity
[Shprintzen et al., 1980; Lacombe et al., 1995]. VWS is caused by mutations in the interferon
regulatory factor 6 (IRF6) gene [Kondo et al., 2002]. This gene is also responsible for the …
[引用][C] Three Novel Mutations of the IRF6 Gene with One Associated with an Unusual Feature in Van der Woude Syndrome
K SUPHAPEETIPORN - 旭硝子財団助成研究成果報告= Reports of …, 2014 - cir.nii.ac.jp
… CiNii Books … CiNii Books … 旭硝子財団助成研究成果報告 = Reports of research
assisted by the Asahi Glass Foundation 1-6, 2014 …
assisted by the Asahi Glass Foundation 1-6, 2014 …
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