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A Point Mutation in the Pre-Zrs Disrupts Sonic Hedgehog Expression in the Limb Bud and Results in Triphalangeal Thumb–polysyndactyly Syndrome

Jacob W P Potuijt,Martijn Baas,Rivka Sukenik-Halevy,Hannie Douben,Picard Nguyen,Deon J Venter,Renée Gallagher,Sigrid M Swagemakers,Steven E R Hovius,Christianne A van Nieuwenhoven,Robert-Jan H Galjaard,Peter J van der Spek,Nadav Ahituv,Annelies de Klein

Genetics in Medicine（2018）

引用 24|浏览36
关键词
congenital limb deformities,genetic enhancer elements,hedgehog protein,polydactyly,syndactyly
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