UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype.
Goodship
J A
JA
Burn
J
J
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D033942:Adaptor Proteins, Vesicular Transport; D000818:Animals; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D051379:Mice; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
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