P343: Identification of a novel homozygous TMEM53 variant in a patient with extensive homozygosity: Classification challenges despite phenotypic consistency with craniotubular dysp... by Layal Abi Farraj, Saeideh Torabi Dalivandan, Naghmeh Dorrani, Deborah Krakow, Josh Deignan

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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci

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