Gnathodiaphyseal dysplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynaecology,Pediatrics, Perinatology, and Child Health
Link
http://www.nature.com/articles/jp2013178.pdf
Reference11 articles.
1. Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S et al. The novel gene encoding aputative transmembrane protine is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet 2004; 74: 1255–1261.
2. Ahluwalia J, Ly JQ, Norman E, Costello RF, Beall DP . Gnathodiaphyseal dysplasia. Clin Imaging 2007; 31: 67–69.
3. Tsutsumi S, Kamata N, Maruoka Y, Ando M, Tezuka O, Enomoto S et al. Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1. J Bone and Miner Res 2003; 18: 413–418.
4. Roginsky VV, Ivanov AL, Khonsari Rh . Recurrent gnathodiaphyseal dysplasia in two Russian Brothers. Int J Oral Maxillo fac Surg 2010; 39: 397–401.
5. Rossbach HC, Letson D, Lacson A, Ruas E, Salazar P . Familial gigantiform cementoma with brittle bone disease: pathologic fractures and osteosarcoma. Pediatr Blood Cancer 2005; 44: 3490–3496.
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2. Genetic disruption of Ano5 leads to impaired osteoclastogenesis for gnathodiaphyseal dysplasia;Oral Diseases;2023-03-29
3. Displasia gnatodiafisaria: revisione della letteratura e trattamento di due casi clinici;Dental Cadmos;2021-04
4. Recurrent femoral shaft fractures in a child with gnathodiaphyseal dysplasia: a case report;BMC Musculoskeletal Disorders;2019-02-23
5. Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5);Bone;2018-02
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