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Paper Details

Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Hum Mutat
7
2022
21-bp (7-alanine) duplication, 27-bp duplication, ExpansionHunter, HOXD13, HOXD13 polyalanine, HOXD13 polyalanine tract, SDTY2, SPD, Synpolydactyly 1, alanine, congenital limb malformation disorders, genetic limb malformation, polyalanine, polydactyly, syndactyly, syndactyly type II, synpolydactyly, webbing of the third and fourth fingers, and the fourth and fifth toes
Author NameAffiliation
Sean McGrathThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Vincent MagriniThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Vincent MagriniThe Ohio State University
Peter WhiteThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Peter WhiteThe Ohio State University
Daniel C KoboldtThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Daniel C KoboldtThe Ohio State University
Richard K WilsonThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
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Release 1.2