Literature DB >> 10748420

1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities.

C Houdayer, V Soupre, B Karcenty, M P Vazquez, S Odent, D Lacombe, Y Le Bouc, A Munnich, M Bahuau.   

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Year:  2000        PMID： 10748420     DOI： 10.1002/(sici)1096-8628(20000313)91:2<161::aid-ajmg18>3.0.co;2-q

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  1 in total

1.  Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

Authors:  Shuji Kayano; Shigeo Kure; Yoichi Suzuki; Kiyoshi Kanno; Yoko Aoki; Shinji Kondo; Brian C Schutte; Jeffrey C Murray; Atsushi Yamada; Yoichi Matsubara
Journal:  J Hum Genet       Date:  2003-11-15       Impact factor: 3.172
  1 in total

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