Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3.

CONCLUSION: Our case illustrates the complexities of multiple genetic mutations in a child.
PMID: 32597698 [PubMed - as supplied by publisher]

Source: Fetal and Pediatric Pathology - July 2, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research