{"doi":"10.33612/diss.247461631","title":"Underexposed features of CHARGE syndrome: immunological, adrenal, and scapular function","abstract":"CHAPTER 1 10 CHARGE syndrome is a complex, highly variable syndrome, and many of its clinical aspects have not yet been intensively studied. With the rapid introduction of new genome-wide genetic techniques, more genetic diagnoses of CHARGE are being made in individuals with otherwise clinically unrecognised expressions of the syndrome, but clinical guidelines are still under development and often lack evidence to support inclusion of newly associated anomalies.","journal":"University of Groningen research database (University of Groningen / Centre for Information Technology)","year":2022,"id":312331,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9466,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1010298,"name":"Monica T.Y. Wong","orcid":null,"position":0,"is_corresponding":true}],"reference_count":199,"raw_metadata":null,"created_at":"2026-07-19T00:33:36.072096Z","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":[]}