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CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants

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Author(s):
Nunes, Natalia ; Zamariolli, Malu ; Dantas, Anelisa Gollo ; Cola, Paula Cristina ; Agostinho, Francisco ; Piazzon, Flavia Balbo ; Meloni, Vera Ayres ; Melaragno, Maria Isabel
Total Authors: 8
Document type: Journal article
Source: European Journal of Human Genetics; v. 31, p. 1-pg., 2023-05-11.
FAPESP's process: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype
Grantee:Maria Isabel de Souza Aranha Melaragno
Support Opportunities: Research Projects - Thematic Grants