Identification of novel cadherin 23 variants in a Chinese family with hearing loss.

The aim of the present study was to elucidate the role of the non‑syndromic autosomal recessive deafness 12 allelic variant of cadherin 23 (CDH23) in Chinese patients with non‑syndromic hearing loss. The present study focused on a Chinese family with hearing loss in which there were two siblings with autosomal, recessive deafness, ranging from severe to profound hearing loss over all frequencies. DNA sequencing was used to assess the genetic factors in the disease etiology.

Cervical ganglioneuroma: A case report and review of the literature.

Rationale: Ganglioneuromas are benign neoplasm of neuroblastic origin which arise from central or peripheral parts of the autonomic nervous system. They are normally found at posterior mediastinum, retroperitoneum, and the adrenal gland but ganglioneuromas are rarely found in the cervical region.

Patient Concerns: A 12-year-old boy was admitted with a left-lateral neck mass slow growing over a 7-days duration.

The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.

Purpose: We conducted a meta-analysis assessing the association between the p.P240L (c.C719T) variant and the risk of nonsyndromic hearing loss (NSHL).