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A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.
Castori, Marco; Ott, Claus-Eric; Bisceglia, Luigi; Leone, Maria Pia; Mazza, Tommaso; Castellana, Stefano; Tomassi, Jurgen; Lanciotti, Silvia; Mundlos, Stefan; Hennekam, Raoul C; Kornak, Uwe; Brancati, Francesco.
Afiliación
  • Castori M; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Ott CE; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Bisceglia L; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Leone MP; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Mazza T; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Castellana S; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Tomassi J; Neurological Rehabilitation Unit, San Raffaele Hospital, Cassino, Italy.
  • Lanciotti S; Medical Genetics Residency Programme, Tor Vergata University, Rome, Italy.
  • Mundlos S; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Hennekam RC; Max Planck Institute for Molecular Genetics, Development and Disease Group, Berlin, Germany.
  • Kornak U; Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Brancati F; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Am J Med Genet A ; 176(9): 2028-2033, 2018 09.
Article en En | MEDLINE | ID: mdl-30194892

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Cadherinas / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Cadherinas / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Italia