Germline NUP98 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...

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Detalles Bibliográficos
Autores principales: Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D’Ursi, Pasqualina, Larizza, Lidia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9965077/
https://www.ncbi.nlm.nih.gov/pubmed/36835439
http://dx.doi.org/10.3390/ijms24044028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9965077/
https://www.ncbi.nlm.nih.gov/pubmed/36835439
http://dx.doi.org/10.3390/ijms24044028

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