Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.
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Hum Genet. 1998 Jul;103(1):70-80. doi: 10.1007/s004390050786.
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PMID: 9737780
Although only two of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected family members, who were studied by FISH analysis, was the same. It indicates that extragenic factors may play a role in the genesis of p …
Although only two of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected f …