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Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
Acevedo, Ana Carolina; Poulter, James A; Alves, Priscila Gomes; de Lima, Caroline Lourenço; Castro, Luiz Claudio; Yamaguti, Paulo Marcio; Paula, Lilian M; Parry, David A; Logan, Clare V; Smith, Claire E L; Johnson, Colin A; Inglehearn, Chris F; Mighell, Alan J.
Afiliación
  • Acevedo AC; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Department of Dentistry, Health Sciences School, University of Brasilia, Brasilia, Brazil. acevpoppe@gmail.com.
  • Poulter JA; Section of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK. j.a.poulter@leeds.ac.uk.
  • Alves PG; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Department of Dentistry, Health Sciences School, University of Brasilia, Brasilia, Brazil. priscila.gomes.alves@gmail.com.
  • de Lima CL; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Department of Dentistry, Health Sciences School, University of Brasilia, Brasilia, Brazil. carollourenco@yahoo.com.br.
  • Castro LC; Department of Pediatrics, School of Medicine, University of Brasilia, Brasilia, Brazil. lc-castro@uol.com.br.
  • Yamaguti PM; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Department of Dentistry, Health Sciences School, University of Brasilia, Brasilia, Brazil. paulomarcioyamaguti@gmail.com.
  • Paula LM; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Department of Dentistry, Health Sciences School, University of Brasilia, Brasilia, Brazil. lilianmpaula@gmail.com.
  • Parry DA; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK. d.a.parry@leeds.ac.uk.
  • Logan CV; Section of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK. c.logan@leeds.ac.uk.
  • Smith CE; Section of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK. c.e.l.smith@leeds.ac.uk.
  • Johnson CA; Section of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK. medcaj@leeds.ac.uk.
  • Inglehearn CF; Section of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK. c.inglehearn@leeds.ac.uk.
  • Mighell AJ; Section of Ophthalmology and Neuroscience, University of Leeds, Leeds, UK. a.j.mighell@leeds.ac.uk.
BMC Med Genet ; 16: 8, 2015 Feb 21.
Article en En | MEDLINE | ID: mdl-25928877
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteosclerosis / Linaje / Fenotipo / Anomalías Dentarias / Anomalías Múltiples / Exoftalmia / Proteínas de la Matriz Extracelular / Fisura del Paladar / Quinasa de la Caseína I / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Brasil
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteosclerosis / Linaje / Fenotipo / Anomalías Dentarias / Anomalías Múltiples / Exoftalmia / Proteínas de la Matriz Extracelular / Fisura del Paladar / Quinasa de la Caseína I / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Brasil