Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
Xue GaoSha-Sha HuangShi-Wei QiuYu SuWei-Qian WangHui-Yan XuJin-Cao XuDong-Yang KangPu DaiYong-Yi YuanPublished in: Journal of medical genetics (2020)
Screening for PTPN11 in patients with congenital hearing loss and variant-based diagnoses are recommended.
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