Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
Two adult siblings born to first-cousin parents presented a clinical phenotype reminiscent of Rothmund–Thomson syndrome (RTS), implying fragile hair, absent eyelashes/eyebrows, bilateral cataracts, mottled pigmentation, dental decay, hypogonadism, and osteoporosis. As the clinical suspicion was not...
Main Authors: | Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-02-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/24/4/4028 |
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