Acrocallosal syndrome
Definition:
References:
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[1]. Claudia Dafinger, et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011 Jul;121(7):2662-7. [Content Brief]
[2]. Rainer Koenig, et al. Spectrum of the acrocallosal syndrome. Am J Med Genet. 2002 Feb 15;108(1):7-11. [Content Brief]
[3]. Reza Asadollahi, et al. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur J Hum Genet. 2018 Feb;26(2):197-209. [Content Brief]
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