Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Phenotype and Author is Sobreira, Nara L M  [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).
2014
Migliavacca, M. P. et al. Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A 164A, 1170-4 (2014).