Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

BACKGROUND: The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized molecular diagnosis. Here, we describe two patients with a rare...

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Detalles Bibliográficos
Autores principales: Gatticchi, Leonardo, Vešelényiová, Dominika, Miertus, Jan, Enrico Maltese, Paolo, Manara, Elena, Costantini, Alisia, Benedetti, Sabrina, Ďurovčíková, Darina, Krajcovic, Juraj, Bertelli, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123746/
https://www.ncbi.nlm.nih.gov/pubmed/33724725
http://dx.doi.org/10.1002/mgg3.1630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123746/
https://www.ncbi.nlm.nih.gov/pubmed/33724725
http://dx.doi.org/10.1002/mgg3.1630

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