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Your search keyword '"Roversi, Gaia"' showing total 4 results
Start Over Author "Roversi, Gaia" Journal european journal of human genetics
4 results on '"Roversi, Gaia"'

1. Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Author

Imperatore, Valentina, primary, Pinto, Anna Maria, additional, Gelli, Elisa, additional, Trevisson, Eva, additional, Morbidoni, Valeria, additional, Frullanti, Elisa, additional, Hadjistilianou, Theodora, additional, De Francesco, Sonia, additional, Toti, Paolo, additional, Gusson, Elena, additional, Roversi, Gaia, additional, Accogli, Andrea, additional, Capra, Valeria, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2018
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4. Clinical utility gene card for: Rothmund-Thomson syndrome.

Author

Larizza, Lidia, Roversi, Gaia, and Verloes, Alain

Subjects
*SKIN disease genetics, *GENETIC mutation, *SKIN disease diagnosis, *DIFFERENTIAL diagnosis, *GENE frequency, *TELANGIECTASIA
Abstract

The article discusses the genetic aspects of Rothmund-Thomson syndrome (RTS), providing information on its mutation, diagnosis, and differential diagnostics. It mentions that association of biallelic mutations in the RECQL4 gene with RTS and two recessive disorders. It states that poikiloderma, which include telangiectasi lesions, reticulated areas of depigmentation, and punctate atrophy, is the main diagnostic sign of RTS.

Published
2013
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