Case report: heterogeneous mutations of sox10 gene in a chinese infant with waardenburg syndrome type 4c

HIGHLIGHTS

• who: Qiming Pang from the Taibah University, Saudi Arabia have published the paper: Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C, in the Journal: (JOURNAL) of April/28,/2021
• what: According to the different clinical symptoms, the disease is divided into four clinical subtypes, namely WS1-WS4.In this article, the authors report a 5month-old patient with Waardenburg syndrome type 4C who presented with bilateral gray-blue iris, depigmentation of skin and mucosa, Hirschsprung`s disease, and sensorineural hearing loss, Whole exome gene sequencing found a . . .
  

   

  

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