Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

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 molecular analysis and clinical phenotypes of five indi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422040/
https://www.ncbi.nlm.nih.gov/pubmed/25928877
http://dx.doi.org/10.1186/s12881-015-0154-5

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