A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics
Reference18 articles.
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2. Bartoli KM, Jakovljevic J, Woolford JL Jr, Saunders WS: Kinesin molecular motor Eg5 functions during polypeptide synthesis. Mol Biol Cell 22:3420-3430 (2011).
3. Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, et al: Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A 146A:904-909 (2008).
4. Birtel J, Gliem M, Mangold E, Tebbe L, Spier I, et al: Novel insights into the phenotypical spectrum of KIF11-associated retinopathy, including a new form of retinal ciliopathy. Invest Ophthalmol Vis Sci 58:3950-3959 (2017).
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