Journal article

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Michael Field, Ingrid E Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron Willis-Owen, Jozef Gecz

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2012