Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
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Published:2018-10-05
Issue:2
Volume:27
Page:278-290
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ISSN:1018-4813
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Container-title:European Journal of Human Genetics
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language:en
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Short-container-title:Eur J Hum Genet
Author:
Verheije Rosalind, , Kupchik Gabriel S., Isidor Bertrand, Kroes Hester Y., Lynch Sally Ann, Hawkes Lara, Hempel Maja, Gelb Bruce D.ORCID, Ghoumid JamalORCID, D’Amours Guylaine, Chandler Kate, Dubourg Christèle, Loddo Sara, Tümer Zeynep, Shaw-Smith Charles, Nizon Mathilde, Shevell Michael, Van Hoof Evelien, Anyane-Yeboa Kwame, Cerbone Gaetana, Clayton-Smith Jill, Cogné Benjamin, Corre Pierre, Corveleyn Anniek, De Borre Marie, Hjortshøj Tina Duelund, Fradin Mélanie, Gewillig MarcORCID, Goldmuntz Elizabeth, Hens Greet, Lemyre Emmanuelle, Journel Hubert, Kini Usha, Kortüm Fanny, Le Caignec Cedric, Novelli Antonio, Odent Sylvie, Petit Florence, Revah-Politi AnyaORCID, Stong NicholasORCID, Strom Tim M., van Binsbergen Ellen, Devriendt KoenraadORCID, Breckpot Jeroen
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference35 articles.
1. Erdogan F, Ullmann R, Chen W, et al. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A. 2007;143A:172–8. 2. Brunetti-Pierri N, Sahoo T, Frioux S, et al. 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization. Am J Med Genet A. 2008;146A:1933–41. 3. Chen CP, Lin SP, Tsai FJ, Chern SR, Lee CC, Wang W. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Eur J Med Genet. 2008;51:368–72. 4. Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB. Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A. 2010;152A:1326–7. 5. Roberti MC, Surace C, Digilio MC, et al. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome. Orphanet J Rare Dis. 2011;6:17.
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35 articles.
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