Next-generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver Failure

Goh, Vi*; Helbling, Daniel*; Biank, Vincent*; Jarzembowski, Jason; Dimmock, David*

Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0b013e318227e53c
Case Reports