We report here on phenotype-karyotype correlations in two patients with and without complete features of the WHS but sharing the lack of a specific cosmic probe (D4S96/D4Z1) from 4p16.3. These findings indicate that WHS is true a contiguous gene deletion syndrome in nature and expression.
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| http://dx.doi.org/10.1111/j.1399-0004.1996.tb02340.x | DOI Listing |
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