{"id":"https://openalex.org/W1996766907","doi":"https://doi.org/10.1097/00019605-199601000-00004","title":"A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: ???Primrose syndrome???","display_name":"A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: ???Primrose syndrome???","publication_year":1996,"publication_date":"1996-01-01","ids":{"openalex":"https://openalex.org/W1996766907","doi":"https://doi.org/10.1097/00019605-199601000-00004","mag":"1996766907","pmid":"https://pubmed.ncbi.nlm.nih.gov/8867656"},"language":"en","primary_location":{"id":"doi:10.1097/00019605-199601000-00004","doi":"https://doi.org/10.1097/00019605-199601000-00004","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00019605-199601000-00004","pdf_url":null,"source":{"id":"https://openalex.org/S29023056","display_name":"Clinical Dysmorphology","issn_l":"0962-8827","issn":["0962-8827","1473-5717"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","medline","norway-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Dysmorphology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5029739993","display_name":"Noralane M. Lindor","orcid":"https://orcid.org/0000-0001-6129-3490","observed_orcids":["https://orcid.org/0000-0001-6129-3490"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"N M LINDOR","raw_affiliation_strings":["Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111909345","display_name":"Alan D. Hoffman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A D HOFFMAN","raw_affiliation_strings":["Diagnostic Radiology, Mayo Clinic. Rochester, Minnesota 55905, USA Royal Scottish National Hospital, Larbert, Stirlingshire, Scotland","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostic Radiology, Mayo Clinic. Rochester, Minnesota 55905, USA Royal Scottish National Hospital, Larbert, Stirlingshire, Scotland","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012456341","display_name":"David A. Primrose","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D A PRIMROSE","raw_affiliation_strings":["Royal Scottish National Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Royal Scottish National Hospital","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5029739993"],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":null,"apc_paid":null,"fwci":0.1665,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.43976998,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"5","issue":"1","first_page":"27","last_page":"34"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.8476999998092651,"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.8476999998092651,"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.04230000078678131,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.03550000116229057,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/neuropsychiatric-disorders","display_name":"neuropsychiatric disorders","score":0.718999981880188},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7820000052452087},{"id":"https://openalex.org/keywords/craniofacial-dysmorphism","display_name":"craniofacial dysmorphism","score":0.8029999732971191},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.9570000171661377}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8834662437438965},{"id":"https://openalex.org/C2779764123","wikidata":"https://www.wikidata.org/wiki/Q7972881","display_name":"Wasting","level":2,"score":0.6822798252105713},{"id":"https://openalex.org/C2780309369","wikidata":"https://www.wikidata.org/wiki/Q933382","display_name":"Calcification","level":2,"score":0.6349592208862305},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.6280483603477478},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.539795458316803},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.38340839743614197},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.371660977602005},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32818639278411865},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.24762746691703796},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1724025011062622},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.15600481629371643}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D004427","descriptor_name":"Ear Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009133","descriptor_name":"Muscular Atrophy","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D012559","descriptor_name":"Schizophrenia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/00019605-199601000-00004","doi":"https://doi.org/10.1097/00019605-199601000-00004","is_oa":false,"landing_page_url":"https://doi.org/10.1097/00019605-199601000-00004","pdf_url":null,"source":{"id":"https://openalex.org/S29023056","display_name":"Clinical Dysmorphology","issn_l":"0962-8827","issn":["0962-8827","1473-5717"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","medline","norway-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Dysmorphology","raw_type":"journal-article"},{"id":"pmid:8867656","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8867656","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":"Clinical dysmorphology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1994968955","https://openalex.org/W1969946572","https://openalex.org/W2045148726","https://openalex.org/W2463169626","https://openalex.org/W2068171637","https://openalex.org/W2048099527","https://openalex.org/W2058908172","https://openalex.org/W2005535636","https://openalex.org/W2313728024","https://openalex.org/W2079679443"],"abstract_inverted_index":{"We":[0],"report":[1],"a":[2,6,61],"43-year-old":[3],"man":[4],"with":[5,12],"slowly":[7],"progressive":[8],"neurological":[9],"disorder":[10,45],"associated":[11],"impaired":[13],"intellect,":[14],"general":[15],"stiffening":[16],"of":[17,29,68,73],"the":[18,30,43,54,74],"spine":[19],"and":[20,26],"joints,":[21],"craniofacial":[22],"dysmorphism,":[23],"hearing":[24],"loss,":[25],"massive":[27],"calcification":[28,72],"external":[31,75],"ears.":[32],"Extensive":[33],"laboratory":[34],"investigations":[35],"were":[36],"nondiagnostic.":[37],"This":[38],"patient":[39],"appears":[40],"to":[41,71],"have":[42],"same":[44],"reported":[46],"previously":[47],"in":[48],"two":[49],"individual":[50],"case":[51],"reports,":[52],"supporting":[53],"idea":[55],"that":[56],"this":[57],"phenotype":[58],"may":[59],"represent":[60],"recognizable":[62],"new":[63],"clinical":[64],"entity.":[65],"A":[66],"review":[67],"literature":[69],"pertaining":[70],"ears":[76],"is":[77],"presented.":[78]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
