Sérgio B Sousa

Summary

Country: Portugal

Publications

  1. doi request reprint Tetra-amelia and lung hypo/aplasia syndrome: new case report and review
    Sérgio B Sousa
    Servico de Genetica Medica, Centro Hospitalar de Coimbra, Coimbra, Portugal
    Am J Med Genet A 146:2799-803. 2008
  2. ncbi request reprint Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
    Sérgio B Sousa
    1 Clinical and Molecular Genetics Unit, University College London UCL Institute of Child Health, London, UK 2 Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
    Nat Genet 46:70-6. 2014
  3. ncbi request reprint Intellectual disability, unusual facial morphology and hand anomalies in sibs
    Sérgio B Sousa
    Servico de Genetica Medica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
    Am J Med Genet A 161:2401-6. 2013

Detail Information

Publications3

  1. doi request reprint Tetra-amelia and lung hypo/aplasia syndrome: new case report and review
    Sérgio B Sousa
    Servico de Genetica Medica, Centro Hospitalar de Coimbra, Coimbra, Portugal
    Am J Med Genet A 146:2799-803. 2008
    ....
  2. ncbi request reprint Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
    Sérgio B Sousa
    1 Clinical and Molecular Genetics Unit, University College London UCL Institute of Child Health, London, UK 2 Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
    Nat Genet 46:70-6. 2014
    ..We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism. ..
  3. ncbi request reprint Intellectual disability, unusual facial morphology and hand anomalies in sibs
    Sérgio B Sousa
    Servico de Genetica Medica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
    Am J Med Genet A 161:2401-6. 2013
    ..2013 Wiley Periodicals, Inc. ..