Brachydactyly type A1

McCready ME et al. (2002) A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

Kirkpatrick TJ et al. (2003) Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.

HAWS DV et al. (1963) FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.

McCready ME et al. (2005) A century later Farabee has his mutation.

Liu M et al. (2006) A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Zhu G et al. (2007) Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.

Lodder EM et al. (2008) Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.

Gao B et al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

None (1979) Julia Bell.

None (1979) Classification and identification of inherited brachydactylies.

Piussan C et al. (1983) [Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations].

Mastrobattista JM et al. (1995) Evaluation of candidate genes for familial brachydactyly.

Yang X et al. (2000) A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

Lacombe D et al. (2010) Brachydactyly type A1 with short humerus and associated skeletal features.

Orphanet article

OMIM.ORG article

Wikipedia article