Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families

OBJECTIVES: Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic ciliopathy, which includes multi-organ clinical manifestations. The known genes involved in the development of the disease account for the causality in about 80% of the examined cases. MATERIALS & METHODS: We investiga...

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Detalles Bibliográficos
Autores principales: AKBAROGHLI, Susan, KOOSHAVAR, Daniz, GOLCHEHRE, Zahra, KARAMZADE, Arezou, SABERI, Mohammad, ALAEI, Mohammad Reza, ABBASI SADEGH, Masoud, ASADOLLAHI, Mostafa, KERAMATIPOUR, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753002/
https://www.ncbi.nlm.nih.gov/pubmed/35222663
http://dx.doi.org/10.22037/ijcn.v16i1.31650

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753002/
https://www.ncbi.nlm.nih.gov/pubmed/35222663
http://dx.doi.org/10.22037/ijcn.v16i1.31650

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