Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel, Alison M
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 11 2019 - 2594-2604 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
1530-0366
10.1038/s41436-019-0520-3 doi
Adult
Female
High-Throughput Nucleotide Sequencing--methods
Humans
Male
Middle Aged
Mosaicism
Mutation--genetics
Phenotype
Retrospective Studies
Skin Neoplasms--genetics
Tuberous Sclerosis--classification
Tuberous Sclerosis Complex 1 Protein--genetics
Tuberous Sclerosis Complex 2 Protein--genetics
Tumor Suppressor Proteins--genetics
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 11 2019 - 2594-2604 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
1530-0366
10.1038/s41436-019-0520-3 doi
Adult
Female
High-Throughput Nucleotide Sequencing--methods
Humans
Male
Middle Aged
Mosaicism
Mutation--genetics
Phenotype
Retrospective Studies
Skin Neoplasms--genetics
Tuberous Sclerosis--classification
Tuberous Sclerosis Complex 1 Protein--genetics
Tuberous Sclerosis Complex 2 Protein--genetics
Tumor Suppressor Proteins--genetics