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Expanding the Phenotype of SPONASTRIME Dysplasia to Include Short Dental Roots, Hypogammaglobulinemia, and Cataracts
SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from “spondylar and nasal alterations with striated metaphyses” [Fanconi et al. 1983; Helv Paediat Acta 38: 267–280]. We follow two previously reported pa...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6814188/ https://ncbi.nlm.nih.gov/pubmed/18203204 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32155 |
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