References
Armour CM, McCready ME, Baig A, Hunter AG, Bulman DE (2002) A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. J Med Genet 39:186–188
Drinkwater H (1908) An account of a brachydactylous family. Proc R Soc Edin 28:35–57
Drinkwater H (1915) A second brachydactylous family. J Genet 4:323–339
Farabee WC (1903) Hereditary and sexual influence in meristic variation. A study of digital malformations in man. PhD thesis, Harvard University
Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet 28:386–388
Giordano N, Gennari L, Bruttini M, Mari F, Meloni I, Baldi C, Capoccia S, Geraci S, Merlotti D, Amendola A, Martini G, Nuti R, Gennari C, Renieri A (2003) Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. J Med Genet 40:132–135
Haws DV, McKusick VA (1963) Farabee’s brachydactylous kindred revisited. Bull Johns Hopkins Hosp 113:20–30
Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H (2003) Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet 40:42–44
McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE (2002) A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. Hum Genet 111:368–375
Yang X, She C, Guo J, Yu AC, Lu Y, Shi X, Feng G, He L (2000) A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. Am J Hum Genet 66:892–903
Acknowledgements
The authors thank Dr. David Picketts for his critical appraisal of the manuscript and Kevin Young for help with the figures. E.M. McCready’s personal funding was provided by a CIHR studentship. This work was supported by funds from the CIHR, ORDCF and Genome Canada.
Author information
Authors and Affiliations
Corresponding author
Additional information
M. Elizabeth McCready and Allison Grimsey contributed equally to this work.
An erratum to this article can be found at http://dx.doi.org/10.1007/s00439-006-0265-3
Rights and permissions
About this article
Cite this article
McCready, M.E., Grimsey, A., Styer, T. et al. A century later Farabee has his mutation. Hum Genet 117, 285–287 (2005). https://doi.org/10.1007/s00439-005-1289-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00439-005-1289-9