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Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and is characterized by hypoplastic nasal alae, mental retardation, sensorineural hearing loss, short stature, scalp defects, dental abnormalities and abnormal hair patterns. G...
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| Huvudupphovsmän: | , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
The WJG Press and Baishideng
2008
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2773884/ https://ncbi.nlm.nih.gov/pubmed/19058315 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.14.6863 |
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