Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract

PURPOSE: To identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants. METHODS: Clinical examination and phenotyping, segregation, and functional analysis were performed for the two studied pedigrees. RESULTS: A nove...

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Detalles Bibliográficos
Autores principales: Shalaby, Ahmed K., Emery-Billcliff, Peter, Baralle, Diana, Dabir, Tabib, Begum, Shahiba, Waller, Sarah, Tabernero, Lydia, Lowe, Martin, Self, James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334980/
https://www.ncbi.nlm.nih.gov/pubmed/30713423

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