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Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.
John C.P. Williams of New Zealand, whose name is associated with Williams-Beuren syndrome, spent his known professional career primarily in cardiovascular research. His disappearance in the mid-1970s and his later life remain a mystery.
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