TY - GEN AU - Yis,Uluç AU - Uyanik,Gökhan AU - Kurul,Semra AU - Dirik,Eray AU - Ozer,Erdener AU - Gross,Claudia AU - Hehr,Ute TI - A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation SN - 1090-3798 PY - 2007///0403 KW - Codon, Nonsense KW - genetics KW - Humans KW - Hydrocephalus KW - Infant, Newborn KW - Male KW - Mannosyltransferases KW - Muscular Dystrophies KW - congenital KW - Syndrome N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1016/j.ejpn.2006.10.007 ER -