SEMA3E mutation in a patient with CHARGE syndrome -: art. no. e94

被引:101
作者
Lalani, SR
Safiullah, AM
Molinari, LM
Fernbach, SD
Martin, DM
Belmont, JW
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Cardiol, Houston, TX 77030 USA
[3] Univ Michigan, Dept Pediat & Human Genet, Ann Arbor, MI 48109 USA
关键词
D O I
10.1136/jmg.2003.017640
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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页数:4
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共 22 条
[1]   CHARGE association: An update and review for the primary pediatrician [J].
Blake, KD ;
Davenport, SLH ;
Hall, BD ;
Hefner, MA ;
Pagon, RA ;
Williams, MS ;
Lin, AE ;
Graham, JM .
CLINICAL PEDIATRICS, 1998, 37 (03) :159-173
[2]  
Brown CB, 2001, DEVELOPMENT, V128, P3071
[3]   APPARENT CHARGE ASSOCIATION AND CHROMOSOME ANOMALY - CHANCE OR CONTIGUOUS GENE SYNDROME [J].
CLEMENTI, M ;
TENCONI, R ;
TUROLLA, L ;
SILVAN, C ;
BORTOTTO, L ;
ARTIFONI, L .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (02) :246-250
[4]   Bilateral semicircular canal aplasia: A characteristic of the CHARGE association [J].
Collins, WO ;
Buchman, CA .
OTOLOGY & NEUROTOLOGY, 2002, 23 (02) :233-234
[5]   CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3) [J].
De Krijger, RR ;
Mooy, CM ;
Van Hemel, JO ;
Sulkers, EJ ;
Kros, JM ;
Bartelings, MM ;
Govaerts, LCP .
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 1999, 2 (06) :577-581
[6]  
Feiner L, 2001, DEVELOPMENT, V128, P3061
[7]  
Graham JM, 2001, AM J MED GENET, V99, P120, DOI 10.1002/1096-8628(2000)9999:999<00::AID-AJMG1132>3.0.CO
[8]  
2-J
[9]  
Halloran MC, 1999, DEV DYNAM, V214, P13, DOI 10.1002/(SICI)1097-0177(199901)214:1<13::AID-DVDY2>3.0.CO
[10]  
2-3