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Ophthalmic Genetics Volume 45, 2024 - Issue 2
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Case Reports

Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G

Lucas A. Garza-Garzaa Fundación Destellos de Luz, San Pedro Garza García, MéxicoView further author information
,
Priscila Villarreal-Martineza Fundación Destellos de Luz, San Pedro Garza García, México;b Departamento de Ciencias Clínicas de la División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, MéxicoView further author information
,
Rocio Villafuerte-de la Cruza Fundación Destellos de Luz, San Pedro Garza García, México;c Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey, MexicoView further author information
&
Manuel Garza-Leona Fundación Destellos de Luz, San Pedro Garza García, México;b Departamento de Ciencias Clínicas de la División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, MéxicoCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-9515-1992View further author information
ORCID Icon
Pages 180-185 | Received 07 May 2023, Accepted 02 Aug 2023, Published online: 24 Aug 2023

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