Co-occurrence of 22q11 deletion syndrome and hdr syndrome
Author:
Affiliation:
1. Department of Pediatrics; Aichi Prefectural Hospital and Rehabilitation Center for Disabled Children, Dai-ni Aoitori Gakuen; Okazaki; Japan
2. Department of Human Genetics; Yokohama City University, Graduate School of Medicine; Yokohama; Japan
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36083/fullpdf
Reference41 articles.
1. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients;Arnold;Hum Mol Genet,2006
2. 10p12.1 deletion: HDR phenotype without DGS2 features;Benetti;Exp Mol Pathol,2009
3. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development;Chapman;Dev Dyn,1996
4. Clinical manifestations of deletion 22q11.2 syndrome (DiGeorge/velo-cardio-facial syndrome);Digilio;Images Paediatr Cardiol,2005
5. GATA3 abnormalities in six patients with HDR syndrome;Fukami;Endocr J,2011
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