Background Cutaneous epidermal nevi are genotypically diverse mosaic disorders.
Pathogenic hotspot variants in HRAS, KRAS, and less frequently, NRAS and BRAF may …

Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …

Background Several specific syndromes within the RASopathies spectrum lead to an
increased risk of seizures up to developing refractory epileptic encephalopathy …

The RASopathies are a group of syndromes caused by genetic variants that affect the
RASMAPK signaling pathway, which is essential for cell response to diverse stimuli. These …

Objective To demonstrate a high-yield molecular diagnostic workflow for lateralized
overgrowth (LO), a congenital condition with abnormal enlargement of body parts, and to …

Phosphaturic mesenchymal tumors (PMT) are rare neoplasms, which can give rise to a
multifaceted syndrome, otherwise called tumor-induced osteomalacia (TIO). Localizing …

Аннотация Кожно-скелетный синдром с гипофосфатемией (КССГ), или синдром
сального невуса,–это редкая форма гипофосфатемического рахита, обусловленная …

MEDICAL HISTORY: A 6-week-old female infant was presented to the dermatology
outpatient clinic at Kamuzu Central University Hospital in Lilongwe, Malawi, due to …

Phacomatosis spilosebacea and cutaneous skeletal hypophosphatemia syndrome. - Abstract
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