Publications

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Author Title [ Year(Asc)]
Filters: First Letter Of Last Name is F and Author is Ferreira, Carlos R  [Clear All Filters]
2020
Carvalho, D. R., Speck-Martins, C. E., Brum, J. M., Ferreira, C. R. & Sobreira, N. L. M. Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. Am J Med Genet A 182, 1796-1800 (2020).
2019
Staretz-Chacham, O. et al. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 179, 2112-2118 (2019).
2017
Di Gioia, S. Alessandro et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun 8, 16077 (2017).