Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Bardet–Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in...

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Dades bibliogràfiques
Publicat a:NPJ Genom Med
Autors principals: Reiner, Jennifer, Pisani, Laura, Qiao, Wanqiong, Singh, Ram, Yang, Yao, Shi, Lisong, Khan, Wahab A., Sebra, Robert, Cohen, Ninette, Babu, Arvind, Edelmann, Lisa, Jabs, Ethylin Wang, Scott, Stuart A.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5778042/
https://ncbi.nlm.nih.gov/pubmed/29367880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0042-3
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