TY - JOUR
T1 - Report of a new patient with transposition of the great arteries with deletion of 22q11.2
AU - Marble, Michael
AU - Morava, Eva
AU - Lopez, Robert
AU - Pierce, Maria
AU - Pierce, Robert
PY - 1998/7/24
Y1 - 1998/7/24
N2 - We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.
AB - We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.
KW - D-transposition of the great arteries
KW - DiGeorge syndrome
KW - Velo-cardio- facial syndrome
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U2 - 10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I
DO - 10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I
M3 - Article
C2 - 9714431
AN - SCOPUS:0031902310
SN - 0148-7299
VL - 78
SP - 317
EP - 318
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -