Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Brachydactyly type A1, A is an autosomal dominant disorder caused by mutations of the IHH gene. Characteristic is a shortage or even absence of middle phalanges of all digits. Patients exhibit a short stature and some other skeletal abnormalities.
Brachydactyly type A1
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Brachydactyly type A1, A
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IHH
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Brachydactyly type A1, B
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Brachydactyly type A1, C
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Brachydactyly type A1, D
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| 1. |
Gao B et al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 
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| 2. |
McCready ME et al. (2002) A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
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| 3. |
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.
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| 4. |
HAWS DV et al. (1963) FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.
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| 5. |
McCready ME et al. (2005) A century later Farabee has his mutation.
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| 6. |
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.
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| 7. |
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.
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| 8. |
Lodder EM et al. (2008) Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.
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| 9. |
None (1979) Julia Bell.
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| 10. |
None (1979) Classification and identification of inherited brachydactylies.
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| 11. |
Piussan C et al. (1983) [Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations].
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| 12. |
Mastrobattista JM et al. (1995) Evaluation of candidate genes for familial brachydactyly.
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| 13. |
Yang X et al. (2000) A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.
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| 14. |
Lacombe D et al. (2010) Brachydactyly type A1 with short humerus and associated skeletal features.
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| 15. |
OMIM.ORG article Omim 112500
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