New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.

Author:

Camera G,Stella G,Camera A

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity;Beighton, P.; Gericke, G.; Kozlowski, K.; Grobler, L.;Clin Genet,1984

2. L'osteochondrodysplasie spondylo-epiphyso-metaphysaire type Irapa: nouveau nanisme avec rachis and metatarsien courts;Arias, S.; Mota, M.; Pinto-Cisternas, J.;Nouv Presse Med,1976

3. Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome;Hernandez, A.; Ramirez, M.L.; Nazara, Z.; Ocampo, R.; Ibarra, B.; Cantu, J.M.;Am J Med Genet,1980

4. Spondylometepiphyseal dysplasia, Strudwick type;Anderson, C.E.; Sillence, D.O.; Lachman, R.S.;Am J Med Genet,1982

5. Genetic heterogeneity of spondyloepiphyseal dysplasia congenita?;Spranger, J.W.; Maroteaux, P.;(Editorial comment.) Am J Med Genet,1982

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1. Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia;Neurospine;2024-03-31

2. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia;The American Journal of Human Genetics;2016-06

3. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2;American Journal of Medical Genetics Part A;2014-07-10

4. Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia);Clinical Dysmorphology;2008-10

5. A;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

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