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Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3
Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome s...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2017
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5548534/ https://ncbi.nlm.nih.gov/pubmed/28794914 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1599148 |
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