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

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

(2016) James T. Bennett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

(2016) S. Boppudi et al.   CLINICAL GENETICS

Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities

(2015) Yuko Watanabe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A postzygoticNRASmutation in a patient with Schimmelpenning syndrome

(2015) Yukiko Kuroda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Growth and hormone profiling in children with congenital melanocytic naevi

(2015) R. Waelchli et al.   BRITISH JOURNAL OF DERMATOLOGY

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

(2015) Daria C. Loconte et al.   PLoS One

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

(2014) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Menin determines K-RAS proliferative outputs in endocrine cells

(2014) Chester E. Chamberlain et al.   JOURNAL OF CLINICAL INVESTIGATION

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mosaic RASopathies

(2012) Christian Hafner et al.   CELL CYCLE

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

(2012) Leopold Groesser et al.   NATURE GENETICS

Bilateral renal artery stenosis and epidermal nevus syndrome in a child

(2011) Fahad Alsohim et al.   PEDIATRIC NEPHROLOGY

Ras Inhibition Induces Insulin Sensitivity and Glucose Uptake

(2011) Adi Mor et al.   PLoS One