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Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
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Metabolic abnormalities in Williams-Beuren syndrome

María Gabriela Palacios-Verdú1, Maria Segura-Puimedon2, Cristina Borralleras1

  • 1Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.

Journal of Medical Genetics
|February 10, 2015
PubMed
Summary

Williams-Beuren syndrome (WBS) patients often exhibit decreased triglycerides and cholesterol, alongside hyperbilirubinemia linked to hypothyroidism. Gene haploinsufficiency at 7q11.23 may cause these metabolic changes, requiring early management.

Keywords:
BilirubinCholesterolMetabolic profileWBS murine modelsWilliams-Beuren syndrome

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