title: Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
authors.forename: R
authors.initials: R
authors.lastname: Wadey
authors.forename: J
authors.initials: J
authors.lastname: McKie
authors.forename: C
authors.initials: C
authors.lastname: Papapetrou
authors.forename: H
authors.initials: H
authors.lastname: Sutherland
authors.forename: F
authors.initials: F
authors.lastname: Lohman
authors.forename: J
authors.initials: J
authors.lastname: Osinga
authors.forename: I
authors.initials: I
authors.lastname: Frohn
authors.forename: R
authors.initials: R
authors.lastname: Hofstra
authors.forename: C
authors.initials: C
authors.lastname: Meijers
authors.forename: F
authors.initials: F
authors.lastname: Amati
authors.forename: E
authors.initials: E
authors.lastname: Conti
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: P
authors.initials: P
authors.lastname: Scambler
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human