Video Upload Options

References

1. Capurro MI, Xu P, Shi W, Li F, Jia A, Filmus J. Glypican-3 inhibits Hedgehogsignaling during development by competing with patched for Hedgehog binding. Dev Cell. 2008 May;14(5):700-11. doi: 10.1016/j.devcel.2008.03.006.
2. Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D,Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, RobertsonR, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, VanMaldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V,Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, VanDen Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A.Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 caseswith a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360.Review.
3. Davoodi J, Kelly J, Gendron NH, MacKenzie AE. The Simpson-Golabi-Behmelsyndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidaseactivity of CD26. Proteomics. 2007 Jun;7(13):2300-10.
4. Sajorda BJ, Gonzalez-Gandolfi CX, Hathaway ER, Kalish JM.Simpson-Golabi-Behmel Syndrome Type 1. 2006 Dec 19 [updated 2018 Nov 29]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1219/
5. Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y,Nagai T, Ohashi H. GPC3 mutations in seven patients with Simpson-Golabi-Behmelsyndrome. Am J Med Genet A. 2007 Aug 1;143A(15):1703-7.
6. Schmidt J, Hollstein R, Kaiser FJ, Gillessen-Kaesbach G. Molecular analysis ofa novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmelsyndrome. Am J Med Genet A. 2017 May;173(5):1400-1405. doi: 10.1002/ajmg.a.38188.
7. Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, LegiusE, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G. Mutationalanalysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients withSimpson-Golabi-Behmel syndrome: identification of loss-of-function mutations inthe GPC3 gene. Hum Mol Genet. 2000 May 22;9(9):1321-8.