A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13256-017-1396-y.pdf
Reference23 articles.
1. Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, et al. Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010;18:872–80.
2. Faletra F, D’Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, et al. Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A. 2014;164:42–7.
3. Khalifa O, Imtiaz F, Ramzan K, Allam R, Al-Hemidan A, Faqeih E, et al. Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. Am J Med Genet A. 2014;164:2601–6.
4. Aymé S, Preus M. The Marshall and Stickler syndromes: objective rejection of lumping. J Med Genet. 1984;21:34–8.
5. Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999;65:974–83.
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