WES Reveals Novel Heterozygous NBAS Gene Mutations Associated with Fanconi Syndrome in a Patient with SOPH Syndrome: Case Report
Release date:
2021-02-03
Description:
Our study revealed novel heterozygous gene mutations in the NBAS gene of a child diagnosed with SOPH syndrome. The mutations identified by WES were splice-site mutations and the child developed Fanconi syndrome. These novel findings provide new insights into the phenotypes of NBAS gene.
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Organization: Children's Hospital of Fudan University
Submission date: 2021-02-02
Requests: -
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