Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

Author： Abdelhamed Zakia A.   Wheway Gabrielle   Szymanska Katarzyna   Natarajan Subaashini   Toomes Carmel   Inglehearn Chris   Johnson Colin A.  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.22, Iss.7, 2013-04, pp. : 1358-1372

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