{"id":"https://openalex.org/W2500073409","doi":"https://doi.org/10.1093/med/9780199811793.003.0079","title":"Nance-Horan Syndrome","display_name":"Nance-Horan Syndrome","publication_year":2011,"publication_date":"2011-11-01","ids":{"openalex":"https://openalex.org/W2500073409","doi":"https://doi.org/10.1093/med/9780199811793.003.0079","mag":"2500073409"},"language":"en","primary_location":{"id":"doi:10.1093/med/9780199811793.003.0079","doi":"https://doi.org/10.1093/med/9780199811793.003.0079","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780199811793.003.0079","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atlas of X-Linked Intellectual Disability Syndromes","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W2479477390","display_name":"Atlas of X-Linked Intellectual Disability Syndromes"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050097716","display_name":"Roger E. Stevenson","orcid":"https://orcid.org/0000-0002-1806-6345","observed_orcids":["https://orcid.org/0000-0002-1806-6345"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Roger E. Stevenson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"R. Curtis Rogers","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R. Curtis Rogers","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.29674047,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"157","last_page":"158"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.3188000023365021,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.3188000023365021,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.14980000257492065,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.12620000541210175,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/nance-horan-syndrome","display_name":"Nance-Horan syndrome","score":0.9890000224113464},{"id":"https://openalex.org/keywords/congenital-hypothyroidism","display_name":"congenital hypothyroidism","score":0.5120000243186951},{"id":"https://openalex.org/keywords/hypoparathyroidism","display_name":"hypoparathyroidism","score":0.5860000252723694},{"id":"https://openalex.org/keywords/hypopigmentation","display_name":"hypopigmentation","score":0.47600001096725464},{"id":"https://openalex.org/keywords/hypogonadism","display_name":"hypogonadism","score":0.5070000290870667},{"id":"https://openalex.org/keywords/multiple-congenital-anomalies","display_name":"multiple congenital anomalies","score":0.4399999976158142}],"concepts":[{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3658845126628876}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/med/9780199811793.003.0079","doi":"https://doi.org/10.1093/med/9780199811793.003.0079","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780199811793.003.0079","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atlas of X-Linked Intellectual Disability Syndromes","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W122255900","https://openalex.org/W2021838447","https://openalex.org/W2048193162","https://openalex.org/W2155263942"],"related_works":["https://openalex.org/W4414864623","https://openalex.org/W2528157983","https://openalex.org/W6939534510","https://openalex.org/W4245106397","https://openalex.org/W184175474","https://openalex.org/W1451363740","https://openalex.org/W4238902403","https://openalex.org/W2147832924","https://openalex.org/W1013317867","https://openalex.org/W4244569258"],"abstract_inverted_index":{"Abstract":[0],"This":[1],"chapter":[2],"provides":[3],"pictures":[4],"and":[5],"clinical":[6],"details":[7],"of":[8],"NANCE-HORAN":[9],"SYNDROME":[10]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-08-23T00:00:00"}