神経細胞移動異常症 [DS:H01835]

Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

J Clin Invest 121:2662-7 (2011)
DOI:10.1172/JCI43639

Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Eur J Hum Genet 26:197-209 (2018)
DOI:10.1038/s41431-017-0019-9

Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S

Spectrum of the acrocallosal syndrome.

Am J Med Genet 108:7-11 (2002)
DOI:10.1002/ajmg.10236