Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

BACKGROUND: Bardet Biedl Syndrome (BBS) is a rare condition of multi-organ dysfunction with characteristic clinical features of retinal degeneration, truncal obesity, postaxial polydactyly, genital anomaly, intellectual disability and renal dysfunction. It is a hetero-genetic disorder and nineteen B...

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Detalles Bibliográficos
Autores principales: Khan, Muzammil Ahmad, Mohan, Sumitra, Zubair, Muhammad, Windpassinger, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743198/
https://www.ncbi.nlm.nih.gov/pubmed/26846096
http://dx.doi.org/10.1186/s12881-016-0271-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743198/
https://www.ncbi.nlm.nih.gov/pubmed/26846096
http://dx.doi.org/10.1186/s12881-016-0271-9

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