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Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports
RATIONALE: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dento...
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| Publicado no: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6320149/ https://ncbi.nlm.nih.gov/pubmed/30558059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000013644 |
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