Turgut. Tukel, et.al., Homozygous nonsense mutations in TWIST2 cause Setleis syndrome., American journal of human genetics, 2010, 87

http://rdf.ncbi.nlm.nih.gov/pubmed/20691403

Turgut. Tukel, et.al., Homozygous nonsense mutations in TWIST2 cause Setleis syndrome., American journal of human genetics, 2010, 87

pubmed

表現型アノテーション

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

• thin skin_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0001199I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• abnormal snout morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0000443I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• abnormal hair growth_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0002073I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• abnormal eye morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0002092I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• abnormal head morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0000432I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• sparse hair_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0000416I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• absent Meibomian glands_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0006236I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• abnormal craniofacial morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0000428I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• abnormal dermal layer morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0001243I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• lowered ear position_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0000024I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• skin lesions_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0001212I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• Meibomian gland hypoplasia_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0013389I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• abnormal skin adnexa morphology_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0010678I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• decreased subcutaneous adipose tissue amount_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0008844I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• alopecia_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0000414I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor
• loss of eyelid cilia_Twist2<tm1(cre)Dor>/Twist2<tm1(cre)Dor>
  http://metadb.riken.jp/0000425I129X1SvJC57BL6Twist2tm1creDorTwist2tm1creDorTwist2tm1creDor