{"id":"https://openalex.org/W930457","doi":null,"title":"Clinical presentation of a patient with novel mutation in CYP17 gene","display_name":"Clinical presentation of a patient with novel mutation in CYP17 gene","publication_year":2006,"publication_date":"2006-12-04","ids":{"openalex":"https://openalex.org/W930457","mag":"930457"},"language":"en","primary_location":{"id":"mag:930457","doi":null,"is_oa":false,"landing_page_url":"http://www.endocrine-abstracts.org/ea/0011/ea0011p732.htm","pdf_url":null,"source":{"id":"https://openalex.org/S4306499828","display_name":"8th European Congress of Endocrinology incorporating the British Endocrine Societies","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"8th European Congress of Endocrinology incorporating the British Endocrine Societies","raw_type":null},"parent_works":[],"lineage":["https://openalex.org/W930457"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":[],"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/A5112494327","display_name":"\u0414\u0437\u0435\u0440\u0430\u043d\u043e\u0432\u0430 \u041b\u0430\u0440\u0438\u0441\u0430 \u041a\u043e\u043d\u0441\u0442\u0430\u043d\u0442\u0438\u043d\u043e\u0432\u043d\u0430","orcid":"https://orcid.org/0000-0002-0327-4619","observed_orcids":["https://orcid.org/0000-0002-0327-4619"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"\u041b \u041a \u0414\u0437\u0435\u0440\u0430\u043d\u043e\u0432\u0430","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054636179","display_name":"Tiul'pakov An","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tiul'pakov An","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109365370","display_name":"EA Pigarova","orcid":"https://orcid.org/0000-0001-6539-466X","observed_orcids":["https://orcid.org/0000-0001-6539-466X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"EA Pigarova","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022818987","display_name":"AV Voroncov","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"AV Voroncov","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5086761147","display_name":"\u0410. \u041c. \u0410\u0440\u0442\u0435\u043c\u043e\u0432\u0430","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"\u0410 \u041c \u0410\u0440\u0442\u0435\u043c\u043e\u0432\u0430","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":7.558e-05,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"11","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.8574000000953674,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.8574000000953674,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.1216999962925911,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11839","display_name":"Hormonal Regulation and Hypertension","score":0.009399999864399433,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cyp17-gene","display_name":"CYP17 gene","score":0.8790000081062317},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9760000109672546},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.8259999752044678},{"id":"https://openalex.org/keywords/steroidogenic-enzymes","display_name":"steroidogenic enzymes","score":0.453000009059906},{"id":"https://openalex.org/keywords/congenital-adrenal-hyperplasia","display_name":"congenital adrenal hyperplasia","score":0.8569999933242798},{"id":"https://openalex.org/keywords/17-alpha-hydroxylase-deficiency","display_name":"17-hydroxylase deficiency","score":0.7799999713897705}],"concepts":[{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.6471850275993347},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5272423624992371},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4710633158683777},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4557492434978485},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42708727717399597},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3209574222564697},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30799204111099243},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.1353122889995575}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:930457","doi":null,"is_oa":false,"landing_page_url":"http://www.endocrine-abstracts.org/ea/0011/ea0011p732.htm","pdf_url":null,"source":{"id":"https://openalex.org/S4306499828","display_name":"8th European Congress of Endocrinology incorporating the British Endocrine Societies","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"8th European Congress of Endocrinology incorporating the British Endocrine Societies","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3080311136","https://openalex.org/W2270245369","https://openalex.org/W2077140805","https://openalex.org/W4213099585","https://openalex.org/W1986353382","https://openalex.org/W2370287644","https://openalex.org/W2398693918","https://openalex.org/W131195509","https://openalex.org/W189055940","https://openalex.org/W1992718513"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-14T11:04:58.165337","created_date":"2016-06-24T00:00:00"}