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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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422040/
https://ncbi.nlm.nih.gov/pubmed/25928877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0154-5
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