Mildly skewed X-chromosome inactivation as a mechanism for the expression of Allan-Herndon-Dudley syndrome phenotype in a female patient

Author(s)

Favilla, Bianca Pereira ; Olivati, Caroline ; Freitas, Erika Lopes ; Santos, Bibiana ; Melaragno, Maria Isabel ; Meloni, Vera Ayres ; Piazzon, Flavia Balbo

• 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
• FAPESP's process: 20/16422-5 - Characterization of the inactivation of autosomal sequences in patients with unbalanced X-autosome translocations
• Grantee: Bianca Pereira Favilla
• Support Opportunities: Scholarships in Brazil - Doctorate