| Entry |
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| Name |
Desbuquois syndrome
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| Description |
Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) have been identified.
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| Category |
Skeletal dysplasia
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| Pathway |
| Purine metabolism | | Pyrimidine metabolism |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL |
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| Title |
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. |
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| Journal |
Am J Med Genet 52:9-18 (1994) |
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| Reference |
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| Authors |
Faden M, Al-Zahrani F, Arafah D, Alkuraya FS |
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| Title |
Mutation of CANT1 causes Desbuquois dysplasia. |
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| Journal |
Am J Med Genet A 152A:1157-60 (2010) |
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| Reference |
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| Authors |
Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V |
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| Title |
Identification of CANT1 mutations in Desbuquois dysplasia. |
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| Journal |
Am J Hum Genet 85:706-10 (2009) |
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