TY - GEN AU - Li,Yun AU - Laue,Kathrin AU - Temtamy,Samia AU - Aglan,Mona AU - Kotan,L Damla AU - Yigit,Gökhan AU - Canan,Husniye AU - Pawlik,Barbara AU - Nürnberg,Gudrun AU - Wakeling,Emma L AU - Quarrell,Oliver W AU - Baessmann,Ingelore AU - Lanktree,Matthew B AU - Yilmaz,Mustafa AU - Hegele,Robert A AU - Amr,Khalda AU - May,Klaus W AU - Nürnberg,Peter AU - Topaloglu,A Kemal AU - Hammerschmidt,Matthias AU - Wollnik,Bernd TI - Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling SN - 1537-6605 PY - 2011///0118 KW - Animals KW - Bone Morphogenetic Proteins KW - metabolism KW - Brachydactyly KW - Chromosome Mapping KW - Chromosomes, Human, Pair 15 KW - Foot Deformities, Congenital KW - genetics KW - Hand Deformities, Congenital KW - Humans KW - Mutation KW - N-Acetylgalactosaminyltransferases KW - Signal Transduction KW - Syndrome KW - Zebrafish N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.ajhg.2010.10.003 ER -