A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <i>CHM</i> In-Frame Variants Exert a Dominant Negative Effect? A Case Report

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <i>CHM</i> In-Frame Variants Exert a Dominant Negative Effect? A Case Report

Choroideremia is an X-linked recessive condition presenting in males, with progressive degeneration of retinal and choroidal tissues leading to progressive visual loss. Its pathological mechanism is due to alterations in the <i>CHM</i> gene that encodes for REP1, a protein required for p...

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Bibliographic Details
Main Authors: Niccolò Di Giosaffatte, Michele Valiante, Stefano Tricarico, Giulia Parise, Anna Maria De Negri, Guido Ricciotti, Lara Florean, Alessandro Paiardini, Irene Bottillo, Paola Grammatico
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Genes
Subjects:
Choroideremia
female carrier
X-linked disease
manifesting female
<i>CHM</i>
REP1
Online Access:https://www.mdpi.com/2073-4425/13/7/1268

Internet

https://www.mdpi.com/2073-4425/13/7/1268

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