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Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.","is_dataset_classified":null,"base_score":5.1298987149230735,"endowment":5.1298987149230735,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"16615981","pmcid":null,"openalex_id":"https://openalex.org/W2063767893","authors":[],"funders":[],"total_grants":0,"fwci":4.6229,"citation_percentile":0.94990883,"influential_citations":0,"citation_trend":[{"year":2012,"count":11},{"year":2013,"count":5},{"year":2014,"count":11},{"year":2015,"count":10},{"year":2016,"count":5},{"year":2017,"count":7},{"year":2018,"count":7},{"year":2019,"count":8},{"year":2020,"count":11},{"year":2021,"count":5},{"year":2022,"count":5},{"year":2023,"count":13},{"year":2024,"count":2},{"year":2025,"count":2},{"year":2026,"count":4}],"oa_status":"closed","license":"https://www.elsevier.com/tdm/userlicense/1.0/","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0022347605010553?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0022347605010553?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.jpeds.2005.10.044","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/16615981","host_type":"repository"}],"fields_of_study":["Congenital Ear and Nasal Anomalies","Tracheal and airway disorders","Head and Neck Surgical Oncology"],"mesh_terms":["Abnormalities, Multiple","Adolescent","Child","Child, Preschool","Choanal Atresia","Cleft Palate","Coloboma","DNA Helicases","DNA-Binding Proteins","Ear, External","Facial Paralysis","Female","Genitalia","Growth Disorders","Heart Defects, Congenital","Humans","Infant","Larynx","Male","Mutation","Phenotype","Tracheoesophageal Fistula","Craniofacial Abnormalities"],"keywords":["CHARGE syndrome","Coloboma","Laryngomalacia","Choanal atresia","Medicine","Hearing loss","Atresia","Goldenhar syndrome","Genetic counseling","Genetic testing","Pediatrics","Genetics","Audiology","Internal medicine","Ophthalmology","Biology","Anatomy","Surgery","Airway"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-17T01:57:49.516192Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}