A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

<i>PIK3CA</i>‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker et al. · American Journal of Medical Genetics Part A · 2014 · 572 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Kyle C. Kurek, Valerie L. Luks, Ugur M. Ayturk et al. · The American Journal of Human Genetics · 2012 · 532 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

Leopold Groesser, Eva Herschberger, Arno Ruetten et al. · Nature Genetics · 2012 · 333 citations

Life Sciences, Dermatology, Genetics +7

Epidermal nevi and the epidermal nevus syndrome

Maureen Rogers, Ian McCrossin, Christopher A Commens · Journal of the American Academy of Dermatology · 1989 · 215 citations

Medicine, Dermatology, Pathology +12

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

James T. Bennett, Tiong Yang Tan, Diana Alcantara et al. · The American Journal of Human Genetics · 2016 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7