Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.
Budarf
M L
ML
Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA.
Konkle
B A
BA
Ludlow
L B
LB
Michaud
D
D
Li
M
M
Yamashiro
D J
DJ
McDonald-McGinn
D
D
Zackai
E H
EH
Driscoll
D A
DA
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
D010980:Platelet Membrane Glycoproteins