The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13256-018-1953-z.pdf
Reference15 articles.
1. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017;376(1):21–31.
2. Sedrak A, Kondamudi NP. Sickle Cell Disease. StatPearls. Treasure Island: StatPearls Publishing. StatPearls Publishing LLC.; 2018.
3. Hannemann A, Weiss E, Rees DC, Dalibalta S, Ellory JC, Gibson JS. The Properties of Red Blood Cells from Patients Heterozygous for HbS and HbC (HbSC Genotype). Anemia. 2011. https://doi.org/10.1155/2011/248527 .
4. Cui L, Wong EH, Cheng G, Firmato de Almeida M, So MT, Sham PC, et al. Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia. PloS One. 2013; https://doi.org/10.1371/journal.pone.0066631 .
5. Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, et al. Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain. Am J Hum Genet. 2000;66(5):1496–503.
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