title: Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA.
authors.forename: M L
authors.initials: ML
authors.lastname: Budarf
authors.forename: B A
authors.initials: BA
authors.lastname: Konkle
authors.forename: L B
authors.initials: LB
authors.lastname: Ludlow
authors.forename: D
authors.initials: D
authors.lastname: Michaud
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: D J
authors.initials: DJ
authors.lastname: Yamashiro
authors.forename: D
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
mesh_terms: D001606:Bernard-Soulier Syndrome / Q000175:diagnosis / Q000235:genetics*; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006822:Hybrid Cells; D007223:Infant; D010980:Platelet Membrane Glycoproteins / Q000235:genetics
chemical_list: D010980:Platelet Membrane Glycoproteins