All individuals with variants in gene ADAMTS9

3 entries on 1 page. Showing entries 1 - 3.
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00104018 Vogelaar-529A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00213208 30609407-F1279-21 PubMed: Choi 2019 2-generation family, affected, unaffected heterozygous carrier parents - - - European - - - - NPHPRC increased echogenicity, medullary cysts, proteinuria, cortical deafness, atrial septal defect, growth retardation, short stature, coloboma, aplasia of vermis, corpus callosum hypoplasia; 5y-end-stage renal disease 1 1 Johan den Dunnen
00213209 30609407-FamA5048-21 PubMed: Choi 2019 2-generation family, affected, unaffected heterozygous carrier parents - yes - Arab - - - - NPHPRC NPHP, nonselective proteinuria, end-stage renal disease since infancy, sensorineural deafness, hepatosplenomegaly, short stature, anemia, thrombocytopenia, osteopenia, rickets; 2y-renal biopsy microcystic dilatation of tubules, immature glomeruli 1 1 Johan den Dunnen
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