- Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
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Hogan AR, Rao KA, Thorson WL, Neville HL, Sola JE, Perez EA
- KMID: 2457751
- Pediatr Gastroenterol Hepatol Nutr.
- 2019 Sep;22(5):487-492.
- doi: 10.5223/pghn.2019.22.5.487
Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX... -
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