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Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

BACKGROUND: Bardet‐Biedl syndrome (BBS) is characterized by a heterogeneous phenotypic spectrum of retinopathy, intellectual disability (ID), obesity, polydactyly, and kidney dysfunctions as the major clinical features. Genetic investigations have reported 21 BBS genes, the products of which are mos...

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Detalles Bibliográficos
Autores principales:	Muzammal, Muhammad, Zubair, Muhammad, Bierbaumer, Sophie, Blatterer, Jasmin, Graf, Ricarda, Gul, Aisha, Abbas, Safdar, Badar, Muhammad, Abbasi, Ansar Ahmad, Khan, Muzammil Ahmad, Windpassinger, Christian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687644/ https://www.ncbi.nlm.nih.gov/pubmed/31294530 http://dx.doi.org/10.1002/mgg3.834

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