Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A
Muhammad Umair, Oliva Palander, Muhammad Bilal, Bader Almuzzaini, Qamre Alam, Farooq Ahmad, Muhammad Younus, Amjad Khan, Ahmed Waqas, Misbahuddin M. Rafeeq, Majid Alfadhel
Topics & Concepts
BiologyCiliogenesisPolydactylyCiliumSanger sequencingGeneticsExome sequencingMissense mutationLocus (genetics)GeneHomology (biology)DNA sequencingMutationCongenital limb and hand anomaliesGenetic Syndromes and ImprintingHedgehog Signaling Pathway Studies