Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel <i>PRDM13</i> and <i>CCNC</i> Duplication

<b>Background:</b> North Carolina Macular Dystrophy (NCMD) is a non-progressive inherited macular dystrophy characterized by marked phenotypic variability. The genetic etiology of NCMD remains largely unknown, and only a limited number of families have been reported in Europe. <b>Methods</b>: We per...

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Autors principals:	Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, Stefania Zampieri, Anna Morgan, Stefania Lenarduzzi, Giuseppe Giovanni Nardone, Elisa Paccagnella, Stefania Cappellani, Laura Diplotti, Stefano Pensiero, Fulvio Parentin, Paolo Gasparini, Maurizio Battaglia Parodi, Giorgia Girotto
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2025-08-01
Col·lecció:	Biomedicines
Matèries:	inherited eye disorder North Carolina macular dystrophy whole exome sequencing
Accés en línia:	https://www.mdpi.com/2227-9059/13/8/1904
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