CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

BACKGROUND: Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS was originally described in...

Descripción completa

Detalles Bibliográficos
Autores principales: Shah, Sohela, Conlin, Laura K., Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A. S., Mennuti, Michael T., Matthews, Randolph P., Spinner, Nancy B., Bull, Laura N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784396/
https://www.ncbi.nlm.nih.gov/pubmed/24086631
http://dx.doi.org/10.1371/journal.pone.0075770

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784396/
https://www.ncbi.nlm.nih.gov/pubmed/24086631
http://dx.doi.org/10.1371/journal.pone.0075770

Ejemplares similares