A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis

The genetic defect of MYO5B is usually associated with microvillus inclusion disease (MVID). MYO5B mutations are one of the rare causes of progressive familial intrahepatic cholestasis (PFIC) with normal/low gamma-glutamyl transferase (GGT). In this report, we discuss the case of a nine-month-old gi...

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Detalles Bibliográficos
Autores principales: Uyar Aksu, Nihal, Görükmez, Orhan, Görükmez, Özlem, Uncuoğlu, Ayşen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649673/
https://www.ncbi.nlm.nih.gov/pubmed/34900494
http://dx.doi.org/10.7759/cureus.19326

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649673/
https://www.ncbi.nlm.nih.gov/pubmed/34900494
http://dx.doi.org/10.7759/cureus.19326

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