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Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers
Disorders within the “ciliopathy” spectrum include Joubert (JS), Bardet–Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single famil...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415794/ https://www.ncbi.nlm.nih.gov/pubmed/22002901 http://dx.doi.org/10.1002/ajmg.a.34173 |