Traduction de «single gene defect disease » (Anglais → Néerlandais) :

monogenic disease | single gene defect disease | single gene disease
monogenetische aandoening

genetic disease induced by defective genes
genetische ziekte veroorzaakt door genetische defecten

An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypo
steroïdedehydrogenasedeficiëntie, dentale anomalieën

A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abno
LAMB2-gerelateerd nefrotisch syndroom beginnend op zuigelingenleeftijd