{"id":"https://openalex.org/W119367285","doi":"https://doi.org/10.5070/d3211025435","title":"Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings","display_name":"Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W119367285","doi":"https://doi.org/10.5070/d3211025435","mag":"119367285","pmid":"https://pubmed.ncbi.nlm.nih.gov/25612123"},"language":"en","primary_location":{"id":"doi:10.5070/d3211025435","doi":"https://doi.org/10.5070/d3211025435","is_oa":true,"landing_page_url":"https://doi.org/10.5070/d3211025435","pdf_url":"https://escholarship.org/content/qt7cz9v3m0/qt7cz9v3m0.pdf?t=ni8ejq","source":{"id":"https://openalex.org/S166925758","display_name":"Dermatology Online Journal","issn_l":"1087-2108","issn":["1087-2108"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","medline","norway-1","oarl","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315571","host_organization_name":"University of California, Davis","host_organization_lineage":["https://openalex.org/P4310315571","https://openalex.org/P4310316177"],"host_organization_lineage_names":["University of California, Davis","University of California"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dermatology Online Journal","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W119367285"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://escholarship.org/content/qt7cz9v3m0/qt7cz9v3m0.pdf?t=ni8ejq","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090510803","display_name":"Mohammad Ali Alshami","orcid":"https://orcid.org/0000-0003-0083-7866","observed_orcids":["https://orcid.org/0000-0003-0083-7866"]},"institutions":[{"id":"https://openalex.org/I170535673","display_name":"Sana'a University","ror":"https://ror.org/04hcvaf32","country_code":"YE","type":"education","lineage":["https://openalex.org/I170535673"]}],"countries":["YE"],"is_corresponding":true,"raw_author_name":"Alshami Mohammad","raw_affiliation_strings":["Assistant Professor of Dermatology P.O. Box: 1950 Sana'a , Yemen","Department of Dermatology, Sana'a University, Sana'a, Yemen"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistant Professor of Dermatology P.O. Box: 1950 Sana'a , Yemen","institution_ids":[]},{"raw_affiliation_string":"Department of Dermatology, Sana'a University, Sana'a, Yemen","institution_ids":["https://openalex.org/I170535673"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5090510803"],"corresponding_institution_ids":["https://openalex.org/I170535673"],"apc_list":{"value":300,"currency":"USD","value_usd":300},"apc_paid":{"value":300,"currency":"USD","value_usd":300},"fwci":1.2567,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.76676768,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"21","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9359999895095825,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9359999895095825,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.04839999973773956,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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":0.012199999764561653,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/ectodermal-dysplasia","display_name":"ectodermal dysplasia","score":0.9210000038146973},{"id":"https://openalex.org/keywords/syndactyly","display_name":"syndactyly","score":0.9919999837875366},{"id":"https://openalex.org/keywords/genodermatoses","display_name":"genodermatosis","score":0.8309999704360962},{"id":"https://openalex.org/keywords/onychogryphosis","display_name":"onychogryphosis","score":0.9959999918937683},{"id":"https://openalex.org/keywords/thumb-hypoplasia","display_name":"thumb hypoplasia","score":0.8629999756813049},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.4390000104904175},{"id":"https://openalex.org/keywords/yemeni-patients","display_name":"Yemeni patients","score":0.5799999833106995}],"concepts":[{"id":"https://openalex.org/C2777202849","wikidata":"https://www.wikidata.org/wiki/Q1360044","display_name":"Syndactyly","level":2,"score":0.9668062925338745},{"id":"https://openalex.org/C2777304866","wikidata":"https://www.wikidata.org/wiki/Q1323713","display_name":"Ectodermal dysplasia","level":2,"score":0.8871500492095947},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8265673518180847},{"id":"https://openalex.org/C2778515351","wikidata":"https://www.wikidata.org/wiki/Q9622","display_name":"Scalp","level":2,"score":0.6600446105003357},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.6087594032287598},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.4935570955276489},{"id":"https://openalex.org/C2777990738","wikidata":"https://www.wikidata.org/wiki/Q1132108","display_name":"Hypospadias","level":2,"score":0.42405465245246887},{"id":"https://openalex.org/C156300145","wikidata":"https://www.wikidata.org/wiki/Q1435091","display_name":"Vellus hair","level":3,"score":0.4140760600566864}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000848","descriptor_name":"Anodontia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D001940","descriptor_name":"Breast","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004423","descriptor_name":"Ear","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005385","descriptor_name":"Fingers","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D006197","descriptor_name":"Hair","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007767","descriptor_name":"Lacrimal Duct Obstruction","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009264","descriptor_name":"Nails, Malformed","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010859","descriptor_name":"Pigmentation Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D013576","descriptor_name":"Syndactyly","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014034","descriptor_name":"Toes","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D014071","descriptor_name":"Tooth Abnormalities","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D015006","descriptor_name":"Yemen","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017880","descriptor_name":"Limb Deformities, Congenital","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.5070/d3211025435","doi":"https://doi.org/10.5070/d3211025435","is_oa":true,"landing_page_url":"https://doi.org/10.5070/d3211025435","pdf_url":"https://escholarship.org/content/qt7cz9v3m0/qt7cz9v3m0.pdf?t=ni8ejq","source":{"id":"https://openalex.org/S166925758","display_name":"Dermatology Online Journal","issn_l":"1087-2108","issn":["1087-2108"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","medline","norway-1","oarl","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315571","host_organization_name":"University of California, Davis","host_organization_lineage":["https://openalex.org/P4310315571","https://openalex.org/P4310316177"],"host_organization_lineage_names":["University of California, Davis","University of California"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dermatology Online Journal","raw_type":"journal-article"},{"id":"pmid:25612123","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25612123","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":"Dermatology online journal","raw_type":"Case Reports"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt7cz9v3m0","doi":null,"is_oa":true,"landing_page_url":"https://escholarship.org/uc/item/7cz9v3m0","pdf_url":"https://escholarship.org/content/qt7cz9v3m0/qt7cz9v3m0.pdf","source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Dermatology Online Journal, vol 21, iss 1","raw_type":"article"},{"id":"pmh:qt7cz9v3m0","doi":null,"is_oa":true,"landing_page_url":"http://www.escholarship.org/uc/item/7cz9v3m0","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mohammad, Alshami. (2015). Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings. Dermatology Online Journal, 21(1). Retrieved from: http://www.escholarship.org/uc/item/7cz9v3m0","raw_type":"article"},{"id":"mag:2336034480","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/7cz9v3m0.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},{"id":"mag:2766739368","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/content/qt7cz9v3m0/qt7cz9v3m0.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S166925758","display_name":"Dermatology Online Journal","issn_l":"1087-2108","issn":["1087-2108"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","medline","norway-1","oarl","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315571","host_organization_name":"University of California, Davis","host_organization_lineage":["https://openalex.org/P4310315571","https://openalex.org/P4310316177"],"host_organization_lineage_names":["University of California, Davis","University of California"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Dermatology Online Journal","raw_type":null}],"best_oa_location":{"id":"doi:10.5070/d3211025435","doi":"https://doi.org/10.5070/d3211025435","is_oa":true,"landing_page_url":"https://doi.org/10.5070/d3211025435","pdf_url":"https://escholarship.org/content/qt7cz9v3m0/qt7cz9v3m0.pdf?t=ni8ejq","source":{"id":"https://openalex.org/S166925758","display_name":"Dermatology Online Journal","issn_l":"1087-2108","issn":["1087-2108"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","medline","norway-1","oarl","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310315571","host_organization_name":"University of California, Davis","host_organization_lineage":["https://openalex.org/P4310315571","https://openalex.org/P4310316177"],"host_organization_lineage_names":["University of California, Davis","University of California"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dermatology Online Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W119367285.pdf","grobid_xml":"https://content.openalex.org/works/W119367285.grobid-xml"},"referenced_works_count":7,"referenced_works":["https://openalex.org/W192851725","https://openalex.org/W1993717590","https://openalex.org/W2015134844","https://openalex.org/W2018539079","https://openalex.org/W2033788991","https://openalex.org/W2053100556","https://openalex.org/W2085811596"],"related_works":["https://openalex.org/W4239459000","https://openalex.org/W3204321780","https://openalex.org/W3133668884","https://openalex.org/W4396807296","https://openalex.org/W2097841504","https://openalex.org/W7163570022","https://openalex.org/W2963760179","https://openalex.org/W4293689750"],"abstract_inverted_index":{"Ectodermal":[0,30],"dysplasias":[1],"(EDs)":[2],"are":[3],"a":[4,36],"group":[5],"of":[6,11,41,59],"genodermatoses":[7],"characterized":[8],"by":[9],"malformations":[10],"tissues":[12],"derived":[13],"from":[14],"the":[15,18,28,60,82],"ectoderm,":[16],"including":[17,54],"skin,":[19],"its":[20],"appendages":[21],"(hair,":[22],"nails,":[23],"sweat":[24],"glands),":[25],"teeth,":[26],"and":[27,62,70,72,104],"breasts.":[29],"dysplasia":[31],"syndactyly":[32,58],"syndrome":[33],"(EDSS)":[34],"is":[35],"rare,":[37],"newly":[38],"described":[39,90],"type":[40],"ED":[42],"involving":[43],"syndactyly.":[44],"We":[45],"report":[46],"2":[47],"Yemeni":[48],"siblings":[49,83],"with":[50,77,85],"typical":[51],"EDSS":[52],"manifestations,":[53],"bilateral,":[55],"partial":[56],"cutaneous":[57],"fingers":[61],"toes;":[63],"sparse,":[64],"coarse,":[65],"brittle":[66],"scalp":[67,106],"hair,":[68],"eyebrows,":[69],"eyelashes;":[71],"conical,":[73],"widely":[74,99],"spaced":[75,100],"teeth":[76],"enamel":[78],"notches.":[79],"In":[80],"addition,":[81],"presented":[84],"other":[86],"features":[87],"hitherto":[88],"not":[89],"for":[91],"this":[92],"syndrome,":[93],"such":[94],"as":[95],"adermatoglyphia,":[96],"onychogryphosis,":[97],"hypoplastic":[98,102],"nipples,":[101],"thumbs,":[103],"red":[105],"hair.":[107]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-14T11:04:58.165337","created_date":"2016-06-24T00:00:00"}
