CHARGE syndrome: an update

2007/02/14 by Damien Sanlaville, Alain Verloes, Alain Verloès · 280 citations
Medicine · #Anatomy #Atresia #Biology #CHARGE syndrome #Charge (physics) #Choanal atresia #Coloboma #Congenital Ear and Nasal Anomalies #Gene #Genetic disorder #Genetic heterogeneity #Genetics #Head and Neck Surgical Oncology #Holoprosencephaly #Molecular genetics #Phenotype #Physics #Tracheal and airway disorders

paper · pdf · doi:10.1038/sj.ejhg.5201778

published in European Journal of Human Genetics 15(4), 389-399 (Springer Science and Business Media LLC)

crossref issued 2007/02/14 · crossref published 2007/02/14 · crossref published-online 2007/02/14 · openalex publication_date 2007/02/14 · crossref created 2007/02/14 · crossref published-print 2007/04/01 · crossref deposited 2024/02/10 · openalex created_date 2025/10/10 · crossref indexed 2026/07/28 · openalex updated_date 2026/07/29

Citations

• CHARGE syndrome: Report of 47 cases and review
• Ear-Nose-Throat Abnormalities in the CHARGE Association
• Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
• Prediction of the Coding Sequences of Unidentified Human Genes. XVI. The Complete Sequences of 150 New cDNA Clones from Brain Which Code for Large Proteins in vitro
• CHARGE Association: An Update and Review for the Primary Pediatrician

Cited by

• CHD7 cooperates with PBAF to control multipotent neural crest formation
• CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
• Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome
• CHD7 [wikipedia]