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

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

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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