106 research outputs found
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation
Our results show that activating FGFR3 mutations can also affect the oral mucosa and that extracutaneous manifestations of EN syndrome can be subtle. We highlight the theoretical risk of the patient having an offspring with thanatophoric dysplasia as gonadal mosaicism for the R248C mutation cannot be excluded
Palpable Purpura with an Unexpected Outcome
Scurvy is a potentially lethal condition caused by inadequate vitamin C intake. Hypovitaminosis of vitamin C causes vessel fragility and follicular hyperkeratosis that can lead to palpable purpuric skin lesions. In this case report, we aim to remind readers that scurvy still occurs in Western countries and that the clinical presentation may resemble vasculitis
Designing an Electro-Hydraulic Control Module for an Open-Circuit Variable Displacement Pump
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