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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Field, Michael, Scheffer, Ingrid E, Gill, Deepak, Wilson, Meredith, Christie, Louise, Shaw, Marie, Gardner, Alison, Glubb, Georgie, Hobson, Lynne, Corbett, Mark, Friend, Kathryn, Willis-Owen, Saffron,Volume:
20
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2012.9
Date:
July, 2012
File:
PDF, 355 KB
english, 2012