[Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis].

@article{Jin2016DiagnosisOA,
  title={[Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis].},
  author={Shengyang Jin and Min-juan Liu and William J. Long and Xi Ping Luo},
  journal={Zhonghua er ke za zhi = Chinese journal of pediatrics},
  year={2016},
  volume={54 12},
  pages={941-945}
}
Objective: To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders. Method: Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation, nephrocalcinosis, auditory anomalies… CONTINUE READING