Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0546-7.pdf
Reference33 articles.
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2. Dietz HC, Cutting CR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337–9.
3. Beighton P, Paepe AD, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology. Am J Med Genet. 1998;77:31–37.
4. Malfait F, de Paepe A. Molecular genetics in classic Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet. 2005;139C:17–23.
5. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342:673–80.
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