Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

2007/10/01 by Pia E. Vuorela, Pia Vuorela, Sirpa Ala-Mello +12 · 4 citations
Medicine · #Anatomy #Atresia #Biology #CHARGE syndrome #Choanal atresia #Coloboma #Congenital Ear and Nasal Anomalies #Exon #Frameshift mutation #Gene #Genetics #Missense mutation #Multiplex ligation-dependent probe amplification #Mutation #Nonsense mutation #Salivary Gland Tumors Diagnosis and Treatment #Tracheal and airway disorders

paper · doi:10.1097/gim.0b013e318156e68e

crossref issued 2007/10/01 · crossref published 2007/10/01 · crossref published-print 2007/10/01 · openalex publication_date 2007/10/01 · crossref created 2009/03/03 · crossref deposited 2023/08/10 · openalex created_date 2025/10/10 · crossref indexed 2026/03/11 · openalex updated_date 2026/07/28

Citations

• CHARGE Association: An Update and Review for the Primary Pediatrician

Cited by

• Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome
• A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
• Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
• CHD7 [wikipedia]