Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome.
Novelli
G
G
Amati
F
F
Dallapiccola
B
B
D033942:Adaptor Proteins, Vesicular Transport; D000818:Animals; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology; D014644:Genetic Variation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D051379:Mice; D019683:Penetrance; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D013045:Species Specificity
D033942:Adaptor Proteins, Vesicular Transport; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human; C107396:Ufd1 protein, mouse