Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho, Oscar F
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. [electronic resource] - Molecular genetics & genomic medicine 05 2019 - e625 p. digital
Publication Type: Journal Article
2324-9269
10.1002/mgg3.625 doi
Dermoid Cyst--genetics
Ectodermal Dysplasia--genetics
Eye Diseases--genetics
GTP Phosphohydrolases--genetics
Humans
Lipomatosis--genetics
Membrane Proteins--genetics
Mosaicism
Neurocutaneous Syndromes--genetics
Nevus, Sebaceous of Jadassohn--genetics
Phenotype
Proto-Oncogene Proteins p21(ras)--genetics
Receptor, Fibroblast Growth Factor, Type 1--genetics
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. [electronic resource] - Molecular genetics & genomic medicine 05 2019 - e625 p. digital
Publication Type: Journal Article
2324-9269
10.1002/mgg3.625 doi
Dermoid Cyst--genetics
Ectodermal Dysplasia--genetics
Eye Diseases--genetics
GTP Phosphohydrolases--genetics
Humans
Lipomatosis--genetics
Membrane Proteins--genetics
Mosaicism
Neurocutaneous Syndromes--genetics
Nevus, Sebaceous of Jadassohn--genetics
Phenotype
Proto-Oncogene Proteins p21(ras)--genetics
Receptor, Fibroblast Growth Factor, Type 1--genetics