All individuals with variants in gene EGFR

5 entries on 1 page. Showing entries 1 - 5.
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00029676 26436111-Pat PubMed: Ganetzky 2015 2 affected homozygous siblings, unaffected carrier parents M yes ? (unknown) Romani 00y01m 0 yes - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) classified as neonatal progeria syndrome 1 2 Rebecca Ganetzky
00089106 28145425-Fam PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 3 affecteds, father, daugther and son F;M ? France - - 0 - - ID delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, normal head circumference, minor dysmorphic features incl. epicanthal folds, ptosis, short philtrum, prognathism, fetal pads, protruding ears; intellectual disability (HP:0001249); speech delay (HP:0000750) 1 3 Karine Poirier
00104009 Vogelaar-509A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00207533 24691054-Pat PubMed: Campbell 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland gypsy Roma - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; ... 1 1 Johan den Dunnen
00294474 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
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