Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Articolo
Data di Pubblicazione:
2015
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Abnormalities, Multiple; Amino Acid Sequence; Animals; Base Sequence; Chromatin Immunoprecipitation; Exome; Eye Abnormalities; Eyelid Diseases; HeLa Cells; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Macrostomia; Microscopy, Electron; Molecular Sequence Data; Mutation, Missense; Protein Conformation; Repressor Proteins; Sequence Analysis, DNA; Skin Abnormalities; Twist Transcription Factor; Zebrafish; Models, Molecular; Phenotype; Genetics; Genetics (clinical)
Elenco autori:
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; Van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto Van Silfhout, Anneke T.; Wolfe, Lynne A.; Tifft, Cynthia J.; Zerfas, Patricia M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G.; Lee, Chyi Chia R.; Ferraz, Victor; Da Silva, Eduarda Morgana; Stevens, Cathy A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo Sanchez, Eva; Brooks, Brian P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J.; Chung, Hon Yin Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk, Witold K.; Mazzanti, Laura; Brunner, Han G.; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V.; Boerkoel, Cornelius F.; Gahl, William A.; De Vries, Bert B. A.; Van Haelst, Mieke M.; Zenker, Martin; Markello, Thomas C.
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