{"id":"https://openalex.org/W2107285251","doi":"https://doi.org/10.1002/ajmg.a.30171","title":"Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley\u2013Bixler syndrome phenotype","display_name":"Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley\u2013Bixler syndrome phenotype","publication_year":2004,"publication_date":"2004-08-05","ids":{"openalex":"https://openalex.org/W2107285251","doi":"https://doi.org/10.1002/ajmg.a.30171","mag":"2107285251","pmid":"https://pubmed.ncbi.nlm.nih.gov/15316970"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.30171","doi":"https://doi.org/10.1002/ajmg.a.30171","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.30171","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5113717187","display_name":"C.H.L. Shackleton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Cedric Shackleton","raw_affiliation_strings":["Children's Hospital Oakland Research Institute, Oakland, California 94609, USA. cshackleton@chori.org","Children's Hospital Oakland Research Institute, Oakland, California, 94609, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Oakland Research Institute, Oakland, California 94609, USA. cshackleton@chori.org","institution_ids":[]},{"raw_affiliation_string":"Children's Hospital Oakland Research Institute, Oakland, California, 94609, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089686510","display_name":"Josep Marcos","orcid":"https://orcid.org/0000-0002-3624-108X","observed_orcids":["https://orcid.org/0000-0002-3624-108X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Josep Marcos","raw_affiliation_strings":["Children's Hospital, Oakland Research Institute, Oakland, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital, Oakland Research Institute, Oakland, California","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010324154","display_name":"Wiebke Arlt","orcid":"https://orcid.org/0000-0001-5106-9719","observed_orcids":["https://orcid.org/0000-0001-5106-9719"]},"institutions":[{"id":"https://openalex.org/I79619799","display_name":"University of Birmingham","ror":"https://ror.org/03angcq70","country_code":"GB","type":"education","lineage":["https://openalex.org/I79619799"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Wiebke Arlt","raw_affiliation_strings":["The Division of Medical Sciences, University of Birmingham, Birmingham, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Medical Sciences, University of Birmingham, Birmingham, United Kingdom","institution_ids":["https://openalex.org/I79619799"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113719694","display_name":"Berthold P. Hauffa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210119759","display_name":"Essen University Hospital","ror":"https://ror.org/02na8dn90","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210119759"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Berthold P. Hauffa","raw_affiliation_strings":["The Department of Pediatric Hematology, Oncology and Endocrinology, University Children's Hospital, Essen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Department of Pediatric Hematology, Oncology and Endocrinology, University Children's Hospital, Essen, Germany","institution_ids":["https://openalex.org/I4210119759"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5113717187"],"corresponding_institution_ids":[],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":1.3166,"has_fulltext":false,"cited_by_count":104,"citation_normalized_percentile":{"value":0.77450515,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"129A","issue":"2","first_page":"105","last_page":"112"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T12421","display_name":"Adrenal Hormones and Disorders","score":0.0012000000569969416,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/p450-oxidoreductase-deficiency","display_name":"P450 oxidoreductase deficiency","score":0.949999988079071},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8650000095367432},{"id":"https://openalex.org/keywords/fetal-virilization","display_name":"fetal virilization","score":0.9779999852180481},{"id":"https://openalex.org/keywords/antley-bixler-syndrome","display_name":"Antley-Bixler syndrome","score":0.9139999747276306},{"id":"https://openalex.org/keywords/aromatase-deficiency","display_name":"aromatase deficiency","score":0.7459999918937683},{"id":"https://openalex.org/keywords/androsterone","display_name":"androsterone","score":0.7039999961853027},{"id":"https://openalex.org/keywords/pregnanediol","display_name":"pregnanediol","score":0.8100000023841858},{"id":"https://openalex.org/keywords/cyp17","display_name":"CYP17","score":0.847000002861023},{"id":"https://openalex.org/keywords/cyp21","display_name":"CYP21","score":0.9990000128746033},{"id":"https://openalex.org/keywords/urinary-steroid-analysis","display_name":"urinary steroid analysis","score":0.5109999775886536},{"id":"https://openalex.org/keywords/congenital-adrenal-hyperplasia","display_name":"congenital adrenal hyperplasia","score":0.7649999856948853},{"id":"https://openalex.org/keywords/dihydrotestosterone","display_name":"dihydrotestosterone","score":0.6240000128746033}],"concepts":[{"id":"https://openalex.org/C2776631543","wikidata":"https://www.wikidata.org/wiki/Q1433654","display_name":"Virilization","level":4,"score":0.9318229556083679},{"id":"https://openalex.org/C2779746161","wikidata":"https://www.wikidata.org/wiki/Q422469","display_name":"Androsterone","level":4,"score":0.7528420090675354},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.7224805355072021},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.7049603462219238},{"id":"https://openalex.org/C2780193516","wikidata":"https://www.wikidata.org/wiki/Q412158","display_name":"Pregnenolone","level":4,"score":0.7019950747489929},{"id":"https://openalex.org/C2777335581","wikidata":"https://www.wikidata.org/wiki/Q409721","display_name":"Estriol","level":3,"score":0.6531645059585571},{"id":"https://openalex.org/C2776250704","wikidata":"https://www.wikidata.org/wiki/Q906054","display_name":"Pregnanediol","level":3,"score":0.6423870921134949},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.5396475791931152},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4787834882736206},{"id":"https://openalex.org/C2778656385","wikidata":"https://www.wikidata.org/wiki/Q414986","display_name":"Estrone","level":3,"score":0.4121137261390686},{"id":"https://openalex.org/C10146269","wikidata":"https://www.wikidata.org/wiki/Q185557","display_name":"Excretion","level":2,"score":0.4016515910625458},{"id":"https://openalex.org/C2777911890","wikidata":"https://www.wikidata.org/wiki/Q62614","display_name":"Androgen","level":3,"score":0.2963879108428955},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26650750637054443},{"id":"https://openalex.org/C2777164284","wikidata":"https://www.wikidata.org/wiki/Q277954","display_name":"Estrogen","level":2,"score":0.23715883493423462},{"id":"https://openalex.org/C2780902042","wikidata":"https://www.wikidata.org/wiki/Q177911","display_name":"Steroid","level":3,"score":0.15906742215156555},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.08824801445007324},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000738","descriptor_name":"Androsterone","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D004964","descriptor_name":"Estriol","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D004964","descriptor_name":"Estriol","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005315","descriptor_name":"Fetal Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005835","descriptor_name":"Genitalia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005858","descriptor_name":"Germany","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008401","descriptor_name":"Gas Chromatography-Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009251","descriptor_name":"NADPH-Ferrihemoprotein Reductase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011276","descriptor_name":"Pregnanediol","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014770","descriptor_name":"Virilism","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014770","descriptor_name":"Virilism","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1002/ajmg.a.30171","doi":"https://doi.org/10.1002/ajmg.a.30171","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.30171","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:15316970","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15316970","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"Case Reports"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/9f2a12bd-2a51-41e1-a2f1-7817a9c2be8d","doi":null,"is_oa":false,"landing_page_url":"https://research.birmingham.ac.uk/en/publications/9f2a12bd-2a51-41e1-a2f1-7817a9c2be8d","pdf_url":null,"source":{"id":"https://openalex.org/S4306402634","display_name":"University of Birmingham Research Portal (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Shackleton, C, Marcos, J, Arlt, W & Hauffa, BP 2004, 'Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype', American Journal of Medical Genetics. Part A, vol. 129A, no. 2, pp. 105-112. https://doi.org/10.1002/ajmg.a.30171","raw_type":"article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G3410030367","display_name":null,"funder_award_id":"HD38940","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G3852308731","display_name":null,"funder_award_id":"RR017854","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G6429746723","display_name":"Gas chromatograph-mass spectrometer with EI and CI","funder_award_id":"S10RR017854","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G853617198","display_name":"FEASIBILITY OF PRENATAL SCREENING FOR SLO SYNDROME","funder_award_id":"R01HD038940","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320325530","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W1460656215","https://openalex.org/W1515029026","https://openalex.org/W1966331345","https://openalex.org/W1966954129","https://openalex.org/W1971794972","https://openalex.org/W1973844103","https://openalex.org/W1985279770","https://openalex.org/W1988067304","https://openalex.org/W1989385848","https://openalex.org/W1999272901","https://openalex.org/W2001827699","https://openalex.org/W2023041684","https://openalex.org/W2023826219","https://openalex.org/W2027863180","https://openalex.org/W2040245335","https://openalex.org/W2042030004","https://openalex.org/W2049622670","https://openalex.org/W2052227787","https://openalex.org/W2057534147","https://openalex.org/W2058466899","https://openalex.org/W2061291666","https://openalex.org/W2070205983","https://openalex.org/W2093395170","https://openalex.org/W2127793672","https://openalex.org/W2130527886","https://openalex.org/W2146889296","https://openalex.org/W2156975338","https://openalex.org/W2159203825","https://openalex.org/W2231964292","https://openalex.org/W2408237056","https://openalex.org/W4255678540"],"related_works":["https://openalex.org/W2124265874","https://openalex.org/W2977030604","https://openalex.org/W2061314774","https://openalex.org/W3036418167","https://openalex.org/W2088331486","https://openalex.org/W7213246620","https://openalex.org/W4409349193","https://openalex.org/W7212258070","https://openalex.org/W2001827699","https://openalex.org/W4310249268"],"abstract_inverted_index":{"We":[0,166,310],"report":[1],"studies":[2],"on":[3,257],"the":[4,23,42,60,76,103,108,115,122,133,151,160,171,179,188,192,199,202,244,263,282,305],"second":[5,43],"pregnancy":[6,44,63,118,223],"of":[7,22,32,41,62,73,79,92,107,117,128,135,150,159,176,182,187,213,221,236,266,315],"a":[8,16,54,185,229],"woman":[9],"who":[10],"had":[11,25,224],"previously":[12],"given":[13],"birth":[14],"to":[15,50],"virilized":[17,259],"female":[18],"infant.":[19],"The":[20,69,217,291],"cause":[21,134],"virilization":[24,74],"not":[26,99],"been":[27,297],"established,":[28],"but":[29,227],"common":[30],"forms":[31],"congenital":[33],"adrenal":[34],"hyperplasia":[35],"(CAH)":[36],"were":[37,98,250],"excluded.":[38],"Longitudinal":[39],"monitoring":[40],"revealed":[45],"that":[46,198,271,312],"estriol":[47,203,320],"excretion":[48,106,146,174,314],"failed":[49],"increase":[51],"normally,":[52],"reaching":[53],"maximum":[55],"0.7":[56],"mg/24":[57,67,148],"hr":[58],"at":[59,114,207],"end":[61],"(normal":[64],"mean":[65],"30":[66],"hr).":[68],"mother":[70],"showed":[71,143,228,262],"signs":[72],"by":[75,141,276],"23rd":[77],"week":[78],"gestation":[80],"and":[81,119,130,238,247,288],"aromatase":[82,93],"deficiency":[83,94,327],"was":[84],"suspected.":[85],"However,":[86,240],"predicted":[87],"urinary":[88,173,230],"metabolites":[89],"for":[90,286,325],"diagnosis":[91],"(for":[95],"example,":[96],"16alpha-hydroxyandrosterone)":[97],"increased":[100,112,126],"significantly":[101],"during":[102],"pregnancy.":[104],"Interestingly,":[105],"androgen":[109],"metabolite":[110,154,163,181],"androsterone":[111],"rapidly":[113],"beginning":[116],"peaked":[120],"around":[121],"20th":[123],"week,":[124],"suggesting":[125],"production":[127],"testosterone":[129],"5alphaDHT,":[131],"probably":[132],"maternal":[136,172],"virilization.":[137],"Urine":[138],"steroid":[139,190,231,253],"analysis":[140,254],"GC/MS":[142],"gradually":[144],"increasing":[145],"(9":[147],"hr)":[149],"normally":[152],"minor":[153],"5alpha-pregnane-3beta,20alpha-diol":[155],"(epiallopregnanediol),":[156],"an":[157,208],"epimer":[158],"dominant":[161],"progesterone":[162],"pregnanediol":[164],"(5beta-pregnane-3alpha,20alpha-diol).":[165],"believe":[167],"epiallopregnanediol":[168,316],"is":[169,274],"largely":[170],"product":[175],"fetal":[177,193],"5-pregnene-3beta,20alpha-diol,":[178],"principal":[180],"pregnenolone,":[183],"implying":[184],"build-up":[186],"latter":[189],"in":[191,201,243,278,299],"adrenal.":[194],"These":[195],"findings":[196],"suggested":[197],"'block'":[200],"biosynthetic":[204],"pathway":[205],"occurs":[206],"early":[209],"stage":[210],"with":[211,304,318],"17-hydroxylation":[212],"pregnenolone":[214],"being":[215],"affected.":[216],"male":[218],"baby":[219],"born":[220],"this":[222,272],"normal":[225],"genitalia":[226],"profile":[232,294],"indicating":[233],"partial":[234],"deficiencies":[235],"P450c17":[237],"P450c21.":[239],"no":[241],"mutations":[242,277],"corresponding":[245],"CYP17":[246,287],"CYP21":[248,289],"genes":[249],"identified.":[251],"Urinary":[252],"carried":[255],"out":[256],"his":[258],"older":[260],"sibling":[261],"same":[264],"pattern":[265],"metabolites.":[267],"Recently,":[268],"we":[269],"determined":[270],"disorder":[273],"caused":[275],"P450":[279],"oxidoreductase":[280],"(OR),":[281],"essential":[283],"redox":[284],"partner":[285],"hydroxylases.":[290],"novel":[292],"metabolic":[293],"has":[295],"now":[296],"seen":[298],"many":[300],"patients,":[301],"most":[302],"diagnosed":[303],"skeletal":[306],"dysplasia":[307],"Antley-Bixler":[308],"syndrome.":[309],"propose":[311],"excessive":[313],"together":[317],"low":[319],"may":[321],"be":[322],"prenatally":[323],"diagnostic":[324],"OR":[326],"(ORD).":[328]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}