Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome

BACKGROUND: Lowe syndrome is a rare X‑linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract, infantile congenital hypotonia, and proximal renal...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Zheng, Bixia, Chen, Qiuxia, Wang, Chunli, Zhou, Wei, Chen, Ying, Ding, Guixia, Jia, Zhanjun, Zhang, Aihua, Huang, SongMing
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732312/
https://ncbi.nlm.nih.gov/pubmed/31376231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.876
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