Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome

BACKGROUND: Bardet–Biedl Syndrome (BBS) is a rare pleiotropic autosomal recessive disease related to ciliopathies with approximately 25 causative genes. BBS is a multisystemic disorder with wide spectrum of manifestations including truncal obesity, retinal dystrophy, male hypogenitalism, postaxial p...

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Detalles Bibliográficos
Autores principales: Dehani, Mohammad, Zare-Abdollahi, Davood, Bushehri, Ata, Dehghani, Azadeh, Effati, Jalil, Miratashi, Seyed Ali Mohammad, Khorram Khorshid, Hamid Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606112/
https://www.ncbi.nlm.nih.gov/pubmed/34900151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606112/
https://www.ncbi.nlm.nih.gov/pubmed/34900151

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