{"id":"https://openalex.org/W2503335822","doi":"https://doi.org/10.1093/med/9780199811793.003.0052","title":"Hereditary Bullous Dystrophy, X-Linked","display_name":"Hereditary Bullous Dystrophy, X-Linked","publication_year":2011,"publication_date":"2011-11-01","ids":{"openalex":"https://openalex.org/W2503335822","doi":"https://doi.org/10.1093/med/9780199811793.003.0052","mag":"2503335822"},"language":"en","primary_location":{"id":"doi:10.1093/med/9780199811793.003.0052","doi":"https://doi.org/10.1093/med/9780199811793.003.0052","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780199811793.003.0052","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/A5108132881","display_name":"Roger E. Stevenson","orcid":null,"observed_orcids":[]},"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":"https://openalex.org/A5101543110","display_name":"R. Curtis Rogers","orcid":"https://orcid.org/0000-0002-0938-4608","observed_orcids":["https://orcid.org/0000-0002-0938-4608"]},"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":0.24120603,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"104","last_page":"105"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.9340999722480774,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11650","display_name":"Skin and Cellular Biology Research","score":0.9340999722480774,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T12355","display_name":"Genetic and rare skin diseases.","score":0.038600001484155655,"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/T11730","display_name":"Autoimmune Bullous Skin Diseases","score":0.0035000001080334187,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/epidermolysis-bullosa","display_name":"epidermolysis bullosa","score":0.7940000295639038},{"id":"https://openalex.org/keywords/x-linked-recessive-inheritance","display_name":"X-linked recessive inheritance","score":0.6990000009536743},{"id":"https://openalex.org/keywords/blistering-skin-disease","display_name":"blistering skin disease","score":0.6029999852180481},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.6600000262260437}],"concepts":[{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.5154717564582825},{"id":"https://openalex.org/C2777017193","wikidata":"https://www.wikidata.org/wiki/Q4162411","display_name":"Dystrophy","level":2,"score":0.48147597908973694},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4157028794288635},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1371041238307953}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/med/9780199811793.003.0052","doi":"https://doi.org/10.1093/med/9780199811793.003.0052","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780199811793.003.0052","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":[{"id":"https://metadata.un.org/sdg/3","score":0.504800021648407,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":2,"referenced_works":["https://openalex.org/W2047035029","https://openalex.org/W2312327360"],"related_works":["https://openalex.org/W7068040662","https://openalex.org/W7100908454","https://openalex.org/W2047035029","https://openalex.org/W2147543448","https://openalex.org/W4239389719","https://openalex.org/W2417899645","https://openalex.org/W4298223926","https://openalex.org/W2403344465","https://openalex.org/W2418303786","https://openalex.org/W2170474051"],"abstract_inverted_index":{"Abstract":[0],"This":[1],"chapter":[2],"provides":[3],"pictures":[4],"and":[5],"clinical":[6],"details":[7],"of":[8],"X-LINKED":[9],"HEREDITARY":[10],"BULLOUS":[11],"DYSTROPHY":[12]},"counts_by_year":[],"updated_date":"2026-10-10T09:11:00.788812","created_date":"2016-08-23T00:00:00"}