Llwytho...
A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome
Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. As well, a number of overlapping overgrowth disorders attributable to mosaic PIK3CA variants...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Am J Med Genet C Semin Med Genet |
|---|---|
| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2019
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7520016/ https://ncbi.nlm.nih.gov/pubmed/31692258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31744 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|