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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

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