Myriam. Peyrard-Janvid, et.al., Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development., American journal of human genetics, 2014, 94

http://rdf.ncbi.nlm.nih.gov/pubmed/24360809

Myriam. Peyrard-Janvid, et.al., Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development., American journal of human genetics, 2014, 94

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal oral cavity morphology_Irf6<Gt(OST398253)Lex>/Irf6<Gt(OST398253)Lex>
  http://metadb.riken.jp/0013818I129S5SvEvBrdC57BL6Irf6GtOST398253LexIrf6GtOST398253LexIrf6GtOST398253Lex
• abnormal periderm development_Irf6<Gt(OST398253)Lex>/Irf6<+>
  http://metadb.riken.jp/0013531I129S5SvEvBrdC57BL6Irf6GtOST398253LexIrf6Irf6GtOST398253LexIrf6
• prenatal lethality, incomplete penetrance_Grhl3<tm1Bogi>/Grhl3<+>,Irf6<Gt(OST398253)Lex>/Irf6<+>
  http://metadb.riken.jp/0011101I129S5SvEvBrdC57BL6C57BL6JGrhl3tm1BogiGrhl3Irf6GtOST398253LexIrf6Irf6GtOST398253LexIrf6Grhl3tm1BogiGrhl3
• abnormal periderm development_Irf6<Gt(OST398253)Lex>/Irf6<Gt(OST398253)Lex>
  http://metadb.riken.jp/0013531I129S5SvEvBrdC57BL6Irf6GtOST398253LexIrf6GtOST398253LexIrf6GtOST398253Lex
• abnormal palate development_Grhl3<tm1Bogi>/Grhl3<tm1Bogi>
  http://metadb.riken.jp/0009653IC57BL6C57BL6JGrhl3tm1BogiGrhl3tm1BogiGrhl3tm1Bogi
• abnormal craniofacial development_Grhl3<tm1Bogi>/Grhl3<+>,Irf6<Gt(OST398253)Lex>/Irf6<+>
  http://metadb.riken.jp/0003935I129S5SvEvBrdC57BL6C57BL6JGrhl3tm1BogiGrhl3Irf6GtOST398253LexIrf6Irf6GtOST398253LexIrf6Grhl3tm1BogiGrhl3
• cleft palate_Grhl3<tm1Bogi>/Grhl3<tm1Bogi>
  http://metadb.riken.jp/0000111IC57BL6C57BL6JGrhl3tm1BogiGrhl3tm1BogiGrhl3tm1Bogi
• abnormal craniofacial development_Grhl3<tm1Bogi>/Grhl3<+>
  http://metadb.riken.jp/0003935IC57BL6C57BL6JGrhl3tm1BogiGrhl3Grhl3tm1BogiGrhl3
• abnormal periderm development_Grhl3<tm1Bogi>/Grhl3<+>
  http://metadb.riken.jp/0013531IC57BL6C57BL6JGrhl3tm1BogiGrhl3Grhl3tm1BogiGrhl3
• abnormal craniofacial development_Irf6<Gt(OST398253)Lex>/Irf6<+>
  http://metadb.riken.jp/0003935I129S5SvEvBrdC57BL6Irf6GtOST398253LexIrf6Irf6GtOST398253LexIrf6
• abnormal palate development_Irf6<Gt(OST398253)Lex>/Irf6<Gt(OST398253)Lex>
  http://metadb.riken.jp/0009653I129S5SvEvBrdC57BL6Irf6GtOST398253LexIrf6GtOST398253LexIrf6GtOST398253Lex
• cleft palate_Irf6<Gt(OST398253)Lex>/Irf6<Gt(OST398253)Lex>
  http://metadb.riken.jp/0000111I129S5SvEvBrdC57BL6Irf6GtOST398253LexIrf6GtOST398253LexIrf6GtOST398253Lex
• postnatal lethality, incomplete penetrance_Grhl3<tm1Bogi>/Grhl3<+>,Irf6<Gt(OST398253)Lex>/Irf6<+>
  http://metadb.riken.jp/0011086I129S5SvEvBrdC57BL6C57BL6JGrhl3tm1BogiGrhl3Irf6GtOST398253LexIrf6Irf6GtOST398253LexIrf6Grhl3tm1BogiGrhl3
• abnormal periderm development_Grhl3<tm1Bogi>/Grhl3<tm1Bogi>
  http://metadb.riken.jp/0013531IC57BL6C57BL6JGrhl3tm1BogiGrhl3tm1BogiGrhl3tm1Bogi
• abnormal periderm development_Grhl3<tm1Bogi>/Grhl3<+>,Irf6<Gt(OST398253)Lex>/Irf6<+>
  http://metadb.riken.jp/0013531I129S5SvEvBrdC57BL6C57BL6JGrhl3tm1BogiGrhl3Irf6GtOST398253LexIrf6Irf6GtOST398253LexIrf6Grhl3tm1BogiGrhl3