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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...

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Bibliografske podrobnosti
izdano v:J Am Acad Dermatol
Main Authors: Lim, Young H., Ovejero, Diana, Derrick, Kristina M., Collins, Michael T., Choate, Keith A.
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Online dostop: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
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