Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis

PURPOSE: Pre-Descemet corneal dystrophy (PDCD) with X-linked ichthyosis (XLI) is associated with mutations in or deletions of the steroid sulfatase gene (STS). As only three cases of genetically confirmed PDCD associated with XLI have been reported, we sought to expand our understanding of the genet...

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Detalles Bibliográficos
Autores principales: Williams, Dominic, Onyia, Onyinye, Chung, Doug D., Kirakosyan, Artak, Hovakimyan, Anna, Payne, Carter, Moshirfar, Majid, Aldave, Anthony J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243677/
https://www.ncbi.nlm.nih.gov/pubmed/37287641

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243677/
https://www.ncbi.nlm.nih.gov/pubmed/37287641

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