12
Jul
Recognizing Williams-Beuren syndrome in diverse populations
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Williams-Beuren syndrome (WBS) is a genetic disorder caused by a deletion in 7q11.23 – a region within the long arm of chromosome 7. Symptoms of WBS include intellectual disability, hypersocial behavior (a characteristically friendly personality), facial abnormalities, cardiovascular disease, short stature, connective tissue abnormalities, and endocrine (hormonal) abnormalities. Common facial... Read More
06
Jul
5q14.3 deletions, the ADGRV1 gene and epilepsy
Chromosome 5q14.3 deletions – deletions within a region of the long arm of chromosome 5 – cause intellectual disability, epilepsy, dysmorphisms (abnormal differences in body structure), structural brain abnormalities, and hypotonia (low muscle tone.) Seizure types found in 5q14.3 deletions typically include myoclonic seizures, infantile onset of febrile seizures, and... Read More
