Article
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
BMC medical genetics - 21 Feb 2015
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
Abstract excerpt
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 individuals from two consanguineous Brazilian families with attenuated Raine Syndrome with previously unreported...
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