Immunological abnormalities in CHARGE syndrome
- 27 May 2007
- journal article
- case report
- Published by Elsevier BV in European Journal of Medical Genetics
- Vol. 50 (5), 338-345
- https://doi.org/10.1016/j.ejmg.2007.05.002
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneJournal of Medical Genetics, 2005
- Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentJournal of Medical Genetics, 2005
- Mutations in a new member of the chromodomain gene family cause CHARGE syndromeNature Genetics, 2004
- Transplantation of Thymus Tissue in Complete DiGeorge SyndromeNew England Journal of Medicine, 1999
- Features of DiGeorge syndrome and CHARGE association in five patients.Journal of Medical Genetics, 1997
- The spectrum of clinical features in CHARGE syndromeClinical Genetics, 1986
- Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE associationThe Journal of Pediatrics, 1981
- Choanal atresia and associated multiple anomaliesThe Journal of Pediatrics, 1979
- The spectrum of the DiGeorge syndromeThe Journal of Pediatrics, 1979
- DiGeorge syndrome(s)The Journal of Pediatrics, 1972