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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Автори:	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
Формат:	Artigo
Мова:	Inglês
Опубліковано:	MDPI AG 2025-08-01
Серія:	Biomedicines
Предмети:	inherited eye disorder North Carolina macular dystrophy whole exome sequencing
Онлайн доступ:	https://www.mdpi.com/2227-9059/13/8/1904
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