USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Williams syndrome
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Congenital microdeletion of long arm of chromosome 7 (deleted region includes elastin gene).
Findings:- Distinctive "elfin" facies- Intellectual disability- Hypercalcemia (↑ sensitivity to vitamin D)- Well-developed verbal skills- Extreme friendliness with strangers- Cardiovascular problems (eg, supravalvular aortic stenosis, renal artery stenosis)
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