Familial Brachydactyly with Variable Expression in Three Family Members
Author:
Funder
None
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/article/10.1007/s12098-018-2730-0/fulltext.html
Reference5 articles.
1. Bell J. On brachydactyly and symphalangism. In: Penrose LS, editor. Treasury of Human Inheritance, vol. 5. London: Cambridge University Press; 1951. p. 1–31.
2. Haws DV. Inherited brachydactyly and hypoplasia of the bones of the extremities. Ann Hum Genet. 1963;26:201–11.
3. Burgess RC. Brachydactyly type C. J Hand Surg Am. 2001;26:31–9.
4. Polinkovsky A, Robin NH, Thomas JT, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997;17:18–9.
5. Everman DB, Bartels CF, Yang Y, et al. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002;112:291–6.
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