Karina da Costa Silveira

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

D. Cavalcanti, R. Pogue, R. Sandoval, 2020, American journal of medical genetics. Part A.

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

D. Cavalcanti, Cynthia Silveira, C. A. Moreno, 2022, Molecular Syndromology.

Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man

T. Athey, P. Kannu, Karina da Costa Silveira, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences.

Cynthia Silveira, Karina da Costa Silveira, M. D. Lacarrubba-Flores, 2023, American journal of medical genetics. Part A.