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pro vyhledávání: '"Paula, Lilian M."'
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Autor:
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
Publikováno v:
Acevedo, A C, Poulter, J A, Alves, P G, de Lima, C L, Castro, L C, Yamaguti, P M, Paula, L M, Parry, D A, Logan, C V, Smith, C E L, Johnson, C A, Inglehearn, C F & Mighell, A J 2015, ' Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ', BMC Medical Genetics, vol. 16, no. 1, 8 . https://doi.org/10.1186/s12881-015-0154-5
BMC Medical Genetics
BMC Medical Genetics
Background Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4f2b77e69929be172e1fc3e4895279e8
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Akademický článek
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Autor:
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.; Department of Oral Medicine, School of Dentistry, University of Leeds, Leeds, UK. a.j.mighell@leeds.ac.uk.
Publikováno v:
BMC medical genetics [BMC Med Genet] 2015 Feb 21; Vol. 16, pp. 8. Date of Electronic Publication: 2015 Feb 21.
Autor:
Yamaguti PM; Dental Anomalies Clinic, University Hospital of Brasilia, Department of Dentistry, Faculty of Health Science, University of Brasilia, Taguatinga Norte-DF, Brazil. paulomarcio@unb.br, Acevedo AC, de Paula LM
Publikováno v:
Operative dentistry [Oper Dent] 2006 Mar-Apr; Vol. 31 (2), pp. 266-72.