![]() ![]() Soedarto, Kampus UNDIP Tembalang, Semarang, Central Java, Indonesia 50275, Telp.: +62-24-8454714, Fax. Journal of Biomedicine and Translational Research Faculty of Medicine, Diponegoro University The copyright form should be signed originally and send to the Editorial Office in the form of original mail, scanned document or fax : The Copyright Transfer Form can be downloaded here: In any way, the contents of the articles and advertisements published in the Journal of Biomedicine and Translational Research Diponegoro University (JBTR) are sole and exclusive responsibility of their respective authors and advertisers. Journal of Biomedicine and Translational Research Diponegoro University, the Editors and the Advisory International Editorial Board make every effort to ensure that no wrong or misleading data, opinions or statements be published in the journal. The Authors submitting a manuscript do so on the understanding that if accepted for publication, copyright of the article shall be assigned to Journal of Biomedicine and Translational Research Diponegoro University as publisher of the journal.Ĭopyright encompasses non-exclusive rights to reproduce and deliver the article in all form and media, including reprints, photographs, microfilms and any other similar reproductions, as well as translations. Seattle (WA), 1993Ĭopyright (c) 2017 Journal of Biomedicine and Translational Research Lalani SR, Hefner MA, Davenport SLH., Pagon RA, et al., CHARGE Syndrome.editors.Thompson, “Laryngomalacia: Disease Presentation, Spectrum, and Management,” International Journal of Pediatrics, vol. Coloboma, congenital heart disease and choanal atresia with multiple anomalies: CHARGE association. Pagon RA, Graham JM Jr, Zonana J, Yong SL.CHARGE Association: An Update and Review for the Primary Pediatrician. Blake, K.D., Davenport, S.L.H., Hall, B.D., Hefner, M.A et al.Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Vissers, L.E., van Ravenswaaij, C.M., Admiraal, R., Hurst, J.A., et al.Speculations on the pathogenesis of CHARGE syndrome. Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defect in multiple developing tissues. ![]() Hurd, E.A., Capers, P.L., Blauwkamp, M.N., Adams, M.E., et al.Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Bosman, E.A., Penn, A.C., Ambrose, J.C., Kettleborough, R., et al.Genital anomalies in Klinefelters syndrome. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. CHARGE syndrome (OMIM 214800) is a constellation of factors that were first described in 1979. Lalani, S.R., Safiullah, A.M., Fernbach, S.D.Mutation update on the CHD7 gene involved in CHARGE syndrome. Janssen, N., Bergman, J.E., Swertz, M.A., Tranebjaerg, L., Lodahl, Met al.Phenotypic spectrum of CHARGE syndrome with CHD7 muta¬tions. Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., et al.An epidemiological analysis of CHARGE syndrome : preliminary results from a Canadian study. Issekutz, K.A., Graham, J.M., Prasad, C., Smith, I.M.Despite these complications, the life expectancy for many individuals can be normal.BibTex Citation Data : = , In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Life expectancy highly depends on the severity of manifestations mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. The CHARGE syndrome characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genitourinary hypoplasia, and ear anomalies is one of the rare syndromes. Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. ![]()
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