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Latest Research Articles

12
Jul

Recognizing Williams-Beuren syndrome in diverse populations

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...
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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...
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25
May

2q33.1 deletion and SATB2 gene mutation or deletion

      Newly published article discussing 2q33.1 deletion and SATB2 gene mutation or deletion. SATB2-associated syndrome (SAS) is a disorder caused by mutations of the SATB2 gene or deletion of this gene within 2q33.1, a region within the long arm of chromosome 2. The symptoms of SAS include developmental...
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