| BRACHYDACTYLIY, TYPE A1 |
283 |
G A |
|
|
E > K |
95 |
|
E1 |
|
|
11455389 |
Gao, B.; Guo, J.; She, C.; Shu, A.; Yang, M.; Tan, Z.; Yang, X.; Guo, S.; Feng, G.; He, L. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nature Genet. 28: 386-388, 2001. |
| BRACHYDACTYLIY, TYPE A1 |
391 |
G A |
|
|
E > K |
131 |
|
E2 |
|
|
11455389 |
Gao, B.; Guo, J.; She, C.; Shu, A.; Yang, M.; Tan, Z.; Yang, X.; Guo, S.; Feng, G.; He, L. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nature Genet. 28: 386-388, 2001. |
| BRACHYDACTYLIY, TYPE A1 |
300 |
|
|
|
D > E |
100 |
|
E1 |
|
|
11455389 |
Gao, B.; Guo, J.; She, C.; Shu, A.; Yang, M.; Tan, Z.; Yang, X.; Guo, S.; Feng, G.; He, L. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nature Genet. 28: 386-388, 2001. |
| BRACHYDACTYLIY, TYPE A1 |
298 |
G A |
|
|
D > N |
100 |
|
|
|
|
12384778 ; 12566523 |
McCready, M. E.; Sweeney, E.; Fryer, A. E.; Donnai, D.; Baig, A.; Racacho, L.; Warman, M. L.; Hunter, A. G. W.; Bulman, D. E. A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. Hum. Genet. 111: 368-375, 2002. ; 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. 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, 2003. |
| ACROCAPITOFEMORAL DYSPLASIA |
137 |
G T |
|
|
P > L |
46 |
|
|
|
|
12632327 |
Hellemans, J.; Coucke, P. J.; Giedion, A.; De Paepe, A.; Kramer, P.; Beemer, F.; Mortier, G. R. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am. J. Hum. Genet. 72: 1040-1046, 2003. |
| ACROCAPITOFEMORAL DYSPLASIA |
569 |
T C |
|
|
V > A |
190 |
|
|
|
|
12632327 |
Hellemans, J.; Coucke, P. J.; Giedion, A.; De Paepe, A.; Kramer, P.; Beemer, F.; Mortier, G. R. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am. J. Hum. Genet. 72: 1040-1046, 2003. |
| BRACHYDACTYLY, TYPE A1 |
284 |
A G |
|
|
E > G |
95 |
|
E1 |
|
|
12525541 |
Kirkpatrick, T. J.; Au, K.-S.; Mastrobattista, J. M.; McCready, M. E.; Bulman, D. E.; Northrup, H. Identification of a mutation in the indian hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. (Letter) J. Med. Genet. 40: 42-44, 2003. |
