Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract

PURPOSE: To identify the genetic basis of an unusual pediatric cortical cataract demonstrating autosomal dominant inheritance in a large European–Australian pedigree. METHODS: DNA from four affected individuals were exome sequenced utilizing a NimbleGen SeqCap EZ Exome V3 kit and HiSeq 2500. DNA fro...

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Detalles Bibliográficos
Autores principales: Young, Terri L., Whisenhunt, Kristina N., LaMartina, Sarah M., Hewitt, Alex W., Mackey, David A., Tompson, Stuart W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9234370/
https://www.ncbi.nlm.nih.gov/pubmed/35749127
http://dx.doi.org/10.1167/iovs.63.6.25

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