Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract
Investigative Ophthalmology & Visual Science2022Vol. 63(6), pp. 25–25
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Terri L. Young, Kristina N. Whisenhunt, Sarah M. LaMartina, Alex W. Hewitt, David A. Mackey, Stuart W. Tompson
Abstract
In a large pedigree, we have identified a SHH intron variant that co-segregates with an unusual pediatric cortical cataract phenotype. SHH is important for lens formation, and mutations in its receptor (PTCH1) cause syndromic cataract. Our data implicate increased function of an enhancer important for SHH expression primarily within developing eye tissues.
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