A Century Later Farabee Has His Mutation

Overview

Journal Hum Genet

Specialty Genetics

Date 2005 May 12

PMID 15886999

Citations 6

Authors

M Elizabeth McCready

Allison Grimsey

Timothy Styer

Sarah M Nikkel

Dennis E Bulman

Affiliations

Soon will be listed here.

Citing Articles

Peer influence on obesity: Evidence from a natural experiment of a gene-environment interaction.

Li Y, Guo G Soc Sci Res. 2020; 93:102483.

PMID: 33308683 PMC: 8607809. DOI: 10.1016/j.ssresearch.2020.102483.

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in Gene.

Salian S, Shukla A, Nishimura G, Girisha K J Pediatr Genet. 2017; 6(3):177-180.

PMID: 28794911 PMC: 5548527. DOI: 10.1055/s-0037-1599201.

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Byrnes A, Racacho L, Grimsey A, Hudgins L, Kwan A, Sangalli M Eur J Hum Genet. 2009; 17(9):1112-20.

PMID: 19277064 PMC: 2986602. DOI: 10.1038/ejhg.2009.18.

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

Gao B, Hu J, Stricker S, Cheung M, Ma G, Law K Nature. 2009; 458(7242):1196-200.

PMID: 19252479 DOI: 10.1038/nature07862.

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Liu M, Wang X, Cai Z, Tang Z, Cao K, Liang B J Hum Genet. 2006; 51(8):727-731.

PMID: 16871364 DOI: 10.1007/s10038-006-0012-6.

References

McCready M, Sweeney E, Fryer A, Donnai D, Baig A, Racacho L . A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. Hum Genet. 2002; 111(4-5):368-75. DOI: 10.1007/s00439-002-0815-2. View

Giordano N, Gennari L, Bruttini M, Mari F, Meloni I, Baldi C . 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. 2003; 40(2):132-5. PMC: 1735372. DOI: 10.1136/jmg.40.2.132. View

Armour C, McCready M, Baig A, Hunter A, Bulman D . A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. J Med Genet. 2002; 39(3):186-8. PMC: 1735058. DOI: 10.1136/jmg.39.3.186. View

Kirkpatrick T, Au K, Mastrobattista J, McCready M, Bulman D, Northrup H . Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet. 2003; 40(1):42-4. PMC: 1735266. DOI: 10.1136/jmg.40.1.42. View

Gao B, Guo J, She C, Shu A, Yang M, Tan Z . Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet. 2001; 28(4):386-8. DOI: 10.1038/ng577. View