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Latest Research Articles

02
May

14q32 deletions and elevated cancer risk

Deletions within chromosome 14q32 – a region within the long arm of chromosome 14 – are rare. Because of this, research on this deletion is scarce. Symptoms of 14q32 deletions include intellectual disability, developmental delay, dysmorphic features, microcephaly (an abnormally small and underdeveloped head), and hypotonia (low muscle tone). Severity...
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22
Jan

7p15 deletion as the cause of hand-foot-genital syndrome

7p15 deletion as the cause of hand-foot-genital syndrome. Hand-foot-genital syndrome (HFGS) is a rare genetic disorder that is characterized by malformations in the hands, feet and the genitourinary tract. The most frequent limb abnormalities in HFGS include short thumbs and fingers, small feet, clinodactyly (curvature) of the fifth finger, and...
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