{"id":"https://openalex.org/W2115223584","doi":"https://doi.org/10.1016/j.jaad.2009.01.026","title":"Multiple angiofibromas and collagenomas in a 45-year-old man with recurrent nephrolithiasis, fatigue, and vision loss","display_name":"Multiple angiofibromas and collagenomas in a 45-year-old man with recurrent nephrolithiasis, fatigue, and vision loss","publication_year":2009,"publication_date":"2009-07-17","ids":{"openalex":"https://openalex.org/W2115223584","doi":"https://doi.org/10.1016/j.jaad.2009.01.026","mag":"2115223584","pmid":"https://pubmed.ncbi.nlm.nih.gov/19615541","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2744374"},"language":"en","primary_location":{"id":"doi:10.1016/j.jaad.2009.01.026","doi":"https://doi.org/10.1016/j.jaad.2009.01.026","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jaad.2009.01.026","pdf_url":null,"source":{"id":"https://openalex.org/S58727509","display_name":"Journal of the American Academy of Dermatology","issn_l":"0190-9622","issn":["0190-9622","1097-6787"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Academy of Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2744374","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Sarah Zeller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I49332381","display_name":"University of Oklahoma Health Sciences Center","ror":"https://ror.org/0457zbj98","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I49332381"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah Zeller","raw_affiliation_strings":["Department of Dermatology, University of Oklahoma Health Sciences Center, Tulsa, Oklahoma, USA","Department of Dermatology, University of Oklahoma Health Sciences Center, Tulsa, Oklahoma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University of Oklahoma Health Sciences Center, Tulsa, Oklahoma, USA","institution_ids":["https://openalex.org/I49332381"]},{"raw_affiliation_string":"Department of Dermatology, University of Oklahoma Health Sciences Center, Tulsa, Oklahoma","institution_ids":["https://openalex.org/I49332381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103038670","display_name":"Stephen J. Marx","orcid":"https://orcid.org/0000-0001-9317-332X","observed_orcids":["https://orcid.org/0000-0001-9317-332X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephen J. Marx","raw_affiliation_strings":["Metabolic Diseases Branch, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Diseases Branch, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075015083","display_name":"Andreea O. Lungu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090567","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andreea O. Lungu","raw_affiliation_strings":["National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090567"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012202221","display_name":"Edward W. Cowen","orcid":"https://orcid.org/0000-0003-1918-4324","observed_orcids":["https://orcid.org/0000-0003-1918-4324"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]},{"id":"https://openalex.org/I4210149717","display_name":"Center for Cancer Research","ror":"https://ror.org/05bjen692","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4210149717"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Edward W. Cowen","raw_affiliation_strings":["Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4210149717"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112798861","display_name":"Maria L Chanco Turner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]},{"id":"https://openalex.org/I4210149717","display_name":"Center for Cancer Research","ror":"https://ror.org/05bjen692","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4210149717"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maria L. Turner","raw_affiliation_strings":["Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4210149717"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5012202221"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4210149717"],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":0.2358,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.64666336,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"61","issue":"2","first_page":"319","last_page":"322"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11991","display_name":"Soft tissue tumor case studies","score":0.21469999849796295,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T11991","display_name":"Soft tissue tumor case studies","score":0.21469999849796295,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.13619999587535858,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.1151999980211258,"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/angiofibroma","display_name":"angiofibroma","score":0.8830000162124634},{"id":"https://openalex.org/keywords/collagenoma","display_name":"collagenoma","score":0.9760000109672546},{"id":"https://openalex.org/keywords/recurrent-nephrolithiasis","display_name":"recurrent nephrolithiasis","score":0.8820000290870667},{"id":"https://openalex.org/keywords/papulonodular-skin-lesions","display_name":"papulonodular skin lesions","score":0.7950000166893005},{"id":"https://openalex.org/keywords/papules","display_name":"papules","score":0.527999997138977},{"id":"https://openalex.org/keywords/lipoma","display_name":"lipoma","score":0.5339999794960022},{"id":"https://openalex.org/keywords/fatigue","display_name":"fatigue","score":0.4359999895095825},{"id":"https://openalex.org/keywords/vision-loss","display_name":"vision loss","score":0.9430000185966492},{"id":"https://openalex.org/keywords/cutaneous-manifestations-of-systemic-disease","display_name":"cutaneous manifestations of systemic disease","score":0.46799999475479126}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9427614212036133},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.7424142360687256},{"id":"https://openalex.org/C2781197403","wikidata":"https://www.wikidata.org/wiki/Q193472","display_name":"Trunk","level":2,"score":0.6940270662307739},{"id":"https://openalex.org/C2779018429","wikidata":"https://www.wikidata.org/wiki/Q129757","display_name":"Thigh","level":2,"score":0.6265078783035278},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.4153948426246643},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.3505837917327881},{"id":"https://openalex.org/C18903297","wikidata":"https://www.wikidata.org/wiki/Q7150","display_name":"Ecology","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000315","descriptor_name":"Adrenalectomy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D001707","descriptor_name":"Biopsy, Needle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003095","descriptor_name":"Collagen Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003095","descriptor_name":"Collagen Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005221","descriptor_name":"Fatigue","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D005221","descriptor_name":"Fatigue","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","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":"D007150","descriptor_name":"Immunohistochemistry","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010180","descriptor_name":"Pancreatectomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012008","descriptor_name":"Recurrence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D013156","descriptor_name":"Splenectomy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D014786","descriptor_name":"Vision Disorders","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D014786","descriptor_name":"Vision Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018322","descriptor_name":"Angiofibroma","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D018322","descriptor_name":"Angiofibroma","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D018570","descriptor_name":"Risk Assessment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018761","descriptor_name":"Multiple Endocrine Neoplasia Type 1","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D018761","descriptor_name":"Multiple Endocrine Neoplasia Type 1","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false},{"descriptor_ui":"D053040","descriptor_name":"Nephrolithiasis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D053040","descriptor_name":"Nephrolithiasis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/j.jaad.2009.01.026","doi":"https://doi.org/10.1016/j.jaad.2009.01.026","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jaad.2009.01.026","pdf_url":null,"source":{"id":"https://openalex.org/S58727509","display_name":"Journal of the American Academy of Dermatology","issn_l":"0190-9622","issn":["0190-9622","1097-6787"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Academy of Dermatology","raw_type":"journal-article"},{"id":"pmid:19615541","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19615541","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":"Journal of the American Academy of Dermatology","raw_type":"Case Reports"},{"id":"pmh:oai:europepmc.org:2002540","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2744374","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:2744374","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2744374","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Am Acad Dermatol","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2002540","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2744374","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"score":0.979200005531311,"id":"https://metadata.un.org/sdg/3","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/G6374948078","display_name":null,"funder_award_id":"Z99 CA999999","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1917620582","https://openalex.org/W1966679509","https://openalex.org/W2007264083","https://openalex.org/W2012589790","https://openalex.org/W2022768063","https://openalex.org/W2057520599","https://openalex.org/W2058174004","https://openalex.org/W2073332144","https://openalex.org/W2100500987","https://openalex.org/W2119481249","https://openalex.org/W2130251781","https://openalex.org/W2146718153","https://openalex.org/W2157212789","https://openalex.org/W2171395146","https://openalex.org/W4245739693","https://openalex.org/W4249879011","https://openalex.org/W6674998306"],"related_works":["https://openalex.org/W4245739693","https://openalex.org/W2375244829","https://openalex.org/W1882518704","https://openalex.org/W1998256245","https://openalex.org/W2539281623","https://openalex.org/W2061338956","https://openalex.org/W2465682966","https://openalex.org/W1980799176","https://openalex.org/W1520795831","https://openalex.org/W2901034006"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":2},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}