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UnknownA dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.
Not available
S-EPMC7520016 | biostudies-literature
UnknownThrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.
Not available
S-EPMC8513083 | biostudies-literature
UnknownExtending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
Not available
S-EPMC2584628 | biostudies-literature
UnknownMolecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.
Not available
S-EPMC6672027 | biostudies-literature
UnknownDubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
Not available
S-EPMC4043752 | biostudies-literature
UnknownA mosaic activating mutation in AKT1 associated with the Proteus syndrome.
Not available
S-EPMC3170413 | biostudies-literature
UnknownMosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Not available
S-EPMC3461408 | biostudies-literature
UnknownEvaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Not available
S-EPMC6128311 | biostudies-literature
UnknownClinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Not available
S-EPMC4320693 | biostudies-literature
UnknownSafety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Not available
S-EPMC6752269 | biostudies-literature
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