Yis, Uluç

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. [electronic resource] - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Jan 2007 - 46-9 p. digital

Publication Type: Case Reports; Journal Article

1090-3798

10.1016/j.ejpn.2006.10.007 doi


Codon, Nonsense--genetics
Humans
Hydrocephalus--genetics
Infant, Newborn
Male
Mannosyltransferases--genetics
Muscular Dystrophies--congenital
Syndrome