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Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exome sequencing was conducted on one affected indivi...

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Detalles Bibliográficos
Autores principales:	Rao, Ali Raza, Nazir, Aamir, Imtiaz, Samina, Paracha, Sohail Aziz, Waryah, Yar Muhammad, Ujjan, Ikram Din, Anwar, Ijaz, Iqbal, Afia, Santoni, Federico A., Shah, Inayat, Gul, Khitab, Baig, Hafiz Muhammad Azhar, Waryah, Ali Muhammad, Antonarakis, Stylianos E., Ansar, Muhammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956862/ https://www.ncbi.nlm.nih.gov/pubmed/36833331 http://dx.doi.org/10.3390/genes14020404

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