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AIMS Valvular heart disease is responsible for considerable morbidity and mortality. Cardiac valves develop as the heart contracts, and they function throughout the lifetime of the organism to prevent retrograde blood flow. Their precise morphogenesis is crucial for cardiac function. Zebrafish is an ideal model to investigate cardiac valve development as it(More)
We describe a female patient with a small supernumerary marker chromosome (sSMC) present in mosaic and characterized in detail by fluorescence in situ hybridization (FISH) using all 24 human whole chromosome painting probes, multicolor banding (MCB) and subcentromere specific multicolor FISH (subcenM-FISH). The sSMC was demonstrated to be derived from(More)
In patients with biotinidase deficiency, an autosomal recessive condition (McKusick 253260) (Wolf et al 1985), skin rashes, alopecia, seizures, hypotonia, developmental regression and ataxia occur usually after the age of 3 months. Additionally, seborrhoeic or atopic dermatitis (eczema) are common symptoms in untreated phenylketonuria patients (PKU)(More)
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