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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Detalles Bibliográficos
Autores principales: Zheng, Bixia, Chen, Qiuxia, Wang, Chunli, Zhou, Wei, Chen, Ying, Ding, Guixia, Jia, Zhanjun, Zhang, Aihua, Huang, SongMing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732312/
https://www.ncbi.nlm.nih.gov/pubmed/31376231
http://dx.doi.org/10.1002/mgg3.876

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732312/
https://www.ncbi.nlm.nih.gov/pubmed/31376231
http://dx.doi.org/10.1002/mgg3.876

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