New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review
Author:
Funder
Italian Ministry of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12920-018-0405-3.pdf
Reference17 articles.
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2. Ragge NK, Brown AG, Poloschek CM, et al. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet. 2005;76:1008–22. https://doi.org/10.1086/430721 .
3. Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014;57(8):369–80. https://doi.org/10.1016/j.ejmg.2014.05.002 .
4. Schilter KF, Schneider A, Bardakjian T, et al. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet. 2011;79:158–68. https://doi.org/10.1111/j.1399-0004.2010.01450.x .
5. Chassaing N, Sorrentino S, Davis EE, et al. OTX2 mutations contribute to the otocephalydysgnathia complex. J Med Genet. 2012;49(6):373–9. https://doi.org/10.1136/jmedgenet-2012-100892 .
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2. Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome;Cureus;2021-07-14
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