A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

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作者： Marco,Castori ^[1] ; Claus-Eric,Ott ^[2] ; Luigi,Bisceglia ^[1] ; Maria Pia,Leone ^[1] ; Tommaso,Mazza ^[3] ; Stefano,Castellana ^[3] ; Jurgen,Tomassi ^[4] ; Silvia,Lanciotti ^[5] ; Stefan,Mundlos ^[2] ; Raoul C,Hennekam ^[6] ; Uwe,Kornak ^[7] ; Francesco,Brancati ^[2]

作者单位： Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. ^[1] Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany. ^[2] Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. ^[3] Neurological Rehabilitation Unit, San Raffaele Hospital, Cassino, Italy. ^[4] Medical Genetics Residency Programme, Tor Vergata University, Rome, Italy. ^[5] Max Planck Institute for Molecular Genetics, Development and Disease Group, Berlin, Germany. ^[6] Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. ^[7] Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Germany. ^[8] Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy. ^[9] Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI) IRCCS, Rome, Italy. ^[10]

关键词 Branchioskeletogenital CDH11 Cadherin-11 Elsahy-Waters