Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3.
Derya AltayOrhan GörükmezDuran ArslanPublished in: Fetal and pediatric pathology (2020)
Our case illustrates the complexities of multiple genetic mutations in a child.