CHARGE: An association or a syndrome?
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health
Reference23 articles.
1. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development;Sanlaville;J. Med. Genet.,2006
2. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome;Vissers;Nat. Genet.,2004
3. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype–phenotype correlation;Lalani;Am. J. Hum. Genet.,2006
4. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene;Jongmans;J. Med. Genet.,2006
5. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome;Wincent;Clin. Genet.,2008
Cited by 19 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. CHARGE syndrome, from occurrence to treatment;Human Gene;2023-05
2. Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact;American Journal of Medical Genetics Part A;2022-10-26
3. Síndrome CHARGE: reporte de caso;Medicina y Laboratorio;2020-09-04
4. A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing;Neonatology;2020
5. The Child with a Syndrome;Scott-Brown’s Otorhinolaryngology Head and Neck Surgery;2018-06-12
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