Laddar...

Cutaneous-Skeletal Hypophosphatemia Syndrome is a Multilineage Somatic Mosaic RASopathy

BACKGROUND: We recently demonstrated multilineage somatic mosaicism in cutaneous-skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic nevi, elevated fibroblast growth factor-23 (FGF23) and hypophosphatemia, finding identical RAS mutations in affected skin and bone. OBJE...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:J Am Acad Dermatol
Huvudupphovsmän: Lim, Young H., Ovejero, Diana, Derrick, Kristina M., Collins, Michael T., Choate, Keith A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004488/
https://ncbi.nlm.nih.gov/pubmed/27444071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaad.2015.11.012
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!