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...

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Detalles Bibliográficos
Autores principales: Zaki, Maha S, Sattar, Shifteh, Massoudi, Rustin A, Gleeson, Joseph G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Clinical Reports
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

Internet

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

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