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All the three patients with MMR gene mutation had diffuse type GC.
All of the patients with MMR gene mutation had diffuse type GC.
All four patients with a dominantly acting mutation had diffuse disease while 12 of the 19 patients with a recessively acting paternal mutation had histologically confirmed focal disease that was managed by resection of the focal lesion/limited pancreatectomy.
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Our results showed that among our familial GC patients with CDH1 mutation, 72.3% patients had diffuse type GC.
Among familial GC patients with CDH1 mutation, most patients (72.3%) had diffuse type GC.
Six of the remaining patients had diffuse disease with a mutation inherited from an unaffected father.
Of the 23 patients with diazoxide-unresponsive disease and an identifiable paternal mutation (4, KCNJ11 and 19, ABCC8), 16 had confirmed focal disease, six had diffuse disease and the histological diagnosis was not confirmed in one.
A paternal mutation in the ABCC8/KCNJ11 genes was identified in 23 diazoxide-unresponsive patients, of whom six had diffuse disease.
He had diffuse abdominal tenderness.
The urinary bladder had diffuse submucosal hemorrhages.
A mutation had stopped it from functioning.
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CEO of Professional Science Editing for Scientists @ prosciediting.com