Article
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Molecular genetics and genomics : MGG - 1 Sept 2022
Potuijt Jacob W P, Sowinska-Seidler Anna, Bukowska-Olech Ewelina, Nguyen Picard, Jankowski Aleksander, Magielsen Frank, Matuszewska Karolina, van Nieuwenhoven Christianne A, Galjaard Robert-Jan H, de Klein Annelies, Jamsheer Aleksander
Abstract excerpt
Herein, we report on a large Polish family presenting with a classical triphalangeal thumb-polysyndactyly syndrome (TPT-PS). This rare congenital limb anomaly is generally caused by microduplications encompassing the Sonic Hedgehog (SHH) limb enhancer, termed the zone of polarizing activity (ZPA) regulatory sequence (ZRS). Recently, a pathogenic variant in the pre-ZRS (pZRS), a conserved sequence located near the...
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