Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome
Academic Article
Publication Date:
2014
Iris type:
1.1 Articolo in rivista
Keywords:
Animals; Base Sequence; Cytogenetic Analysis; Cytoskeletal Proteins; Facies; Frameshift Mutation; Gene Components; Genes, Recessive; Growth Disorders; Humans; Intellectual Disability; Italy; Male; Mice; Microcephaly; Microscopy, Confocal; Molecular Sequence Data; Sequence Analysis, DNA; Syndactyly; Genetics; Genetics (clinical)
List of contributors:
Hussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton Smith, Jill; Vasudevan, Pradeep; Urquhart, Jill E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; ͆migiel, Robert; Gillessen Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman, William G.; Nürnberg, Peter
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