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Your search keyword '"Felipe A. Cerni"' showing total 1 results
Start Over Author "Felipe A. Cerni" Publisher aydin pediatric society
1 results on '"Felipe A. Cerni"'

1. Unprecedented report: First female monozygotic twins as carriers of Hutchinson-Gilford progeria syndrome

Author

Nelson Carlos Reis-Filho, Thays Karolyne Ponte Prado Aguiar, Dafnin Lima Souza Ramos, Bruna Mariah Martins Müller, Isadora Sousa Oliveira, Felipe Augusto Cerni, and Manuela Berto Pucca

Subjects
Hutchinson-Gilford Progeria syndrome, Monozygotic Twins, female, Progeria, Pediatrics, RJ1-570
Abstract

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging resulting from an autosomal mutation in the LMNA gene. This article presents a groundbreaking instance of the first female monozygotic twins affected by HGPS, originating from Brazil, highlighting the exceptional nature of this case.

Published
2024
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