Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201473.pdf
Reference22 articles.
1. Faivre, L., Le Merrer, M., Baumann, C., Polak, M., Chatelain, P., Sulmont, V. et al. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J. Med. Genet. 38, 745–749 (2001).
2. Hennekam, R. C., van Bever, Y. & Oorthuys, J. W. Acromicric dysplasia and geleophysic dysplasia: similarities and differences. Eur. J. Pediatr. 155, 311–314 (1996).
3. Le Goff, C., Morice-Picard, F., Dagoneau, N., Wang, L. W., Perrot, C., Crow, Y. J. et al. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat. Genet. 40, 1119–1123 (2008).
4. Le Goff, C., Mahaut, C., Wang, L. W., Allali, S., Abhyankar, A., Jensen, S. et al. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am. J. Hum. Genet. 89, 7–14 (2011).
5. Spranger, J. W., Gilbert, E. F., Tuffli, G. A., Rossiter, F. P. & Opitz, J. M. Geleophysic dwarfism—a "focal" mucopolysaccharidosis? Lancet 2, 97–98 (1971).
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