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Johanson-Blizzard syndrome
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroi...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Baishideng Publishing Group Co., Limited
2011
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3208372/ https://ncbi.nlm.nih.gov/pubmed/22072859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.v17.i37.4247 |
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