{"id":"https://openalex.org/W4240431331","doi":"https://doi.org/10.24018/ejmed.2020.2.4.380","title":"Usher Deafblindnes","display_name":"Usher Deafblindnes","publication_year":2020,"publication_date":"2020-07-16","ids":{"openalex":"https://openalex.org/W4240431331","doi":"https://doi.org/10.24018/ejmed.2020.2.4.380"},"language":"en","primary_location":{"id":"doi:10.24018/ejmed.2020.2.4.380","doi":"https://doi.org/10.24018/ejmed.2020.2.4.380","is_oa":true,"landing_page_url":"https://doi.org/10.24018/ejmed.2020.2.4.380","pdf_url":"https://ejmed.org/index.php/ejmed/article/download/380/218","source":{"id":"https://openalex.org/S4210203618","display_name":"European Journal of Medical and Health Sciences","issn_l":"2593-8339","issn":["2593-8339"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical and Health Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://ejmed.org/index.php/ejmed/article/download/380/218","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064578554","display_name":"Mehdi Khamaily","orcid":"https://orcid.org/0000-0002-8570-1206","observed_orcids":["https://orcid.org/0000-0002-8570-1206"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mehdi Khamaily","raw_affiliation_strings":["Mohammed V Military Teaching Hospital, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mohammed V Military Teaching Hospital, Morocco","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048207585","display_name":"Salma Bajjouk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210145847","display_name":"H\u00f4pital Universitaire International Cheikh Khalifa","ror":"https://ror.org/03g26ah87","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210145847"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Salma Bajjouk","raw_affiliation_strings":["Cheikh Khalifa International University Hospital, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cheikh Khalifa International University Hospital, Morocco","institution_ids":["https://openalex.org/I4210145847"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043276476","display_name":"M. Bouchaar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210145847","display_name":"H\u00f4pital Universitaire International Cheikh Khalifa","ror":"https://ror.org/03g26ah87","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210145847"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Mounia Bouchaar","raw_affiliation_strings":["Cheikh Khalifa International University Hospital, Casablanca"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cheikh Khalifa International University Hospital, Casablanca","institution_ids":["https://openalex.org/I4210145847"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013552716","display_name":"M. Belmalih","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mounir Belmalih","raw_affiliation_strings":["Mohammed V Military Teaching Hospital, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mohammed V Military Teaching Hospital, Morocco","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101100311","display_name":"Karim Reda","orcid":"https://orcid.org/0009-0006-9577-4069","observed_orcids":["https://orcid.org/0009-0006-9577-4069"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karim Reda","raw_affiliation_strings":["Mohammed V Military Teaching Hospital, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mohammed V Military Teaching Hospital, Morocco","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109375215","display_name":"Abdelbarre Oubaaz","orcid":"https://orcid.org/0009-0004-8933-0993","observed_orcids":["https://orcid.org/0009-0004-8933-0993"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Abdelbarre Oubaaz","raw_affiliation_strings":["Mohammed V Military Teaching Hospital, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mohammed V Military Teaching Hospital, Morocco","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2","issue":"4","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10691","display_name":"Retinal Development and Disorders","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0008999999845400453,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/usher-syndrome-type-2","display_name":"Usher syndrome type 2","score":0.9789999723434448},{"id":"https://openalex.org/keywords/pigmentary-retinopathy","display_name":"pigmentary retinopathy","score":0.9079999923706055},{"id":"https://openalex.org/keywords/congenital-hearing-loss","display_name":"congenital hearing loss","score":0.8809999823570251},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7900000214576721},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8939999938011169},{"id":"https://openalex.org/keywords/photoreceptor-degeneration","display_name":"photoreceptor degeneration","score":0.8029999732971191},{"id":"https://openalex.org/keywords/vestibular-function","display_name":"vestibular function","score":0.7089999914169312}],"concepts":[{"id":"https://openalex.org/C2780274975","wikidata":"https://www.wikidata.org/wiki/Q917399","display_name":"Usher syndrome","level":4,"score":0.9086899161338806},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.7116415500640869},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6018145680427551},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.517317533493042},{"id":"https://openalex.org/C2778313320","wikidata":"https://www.wikidata.org/wiki/Q550455","display_name":"Retinopathy","level":3,"score":0.508319079875946},{"id":"https://openalex.org/C2781372952","wikidata":"https://www.wikidata.org/wiki/Q737460","display_name":"Visual impairment","level":2,"score":0.41817381978034973},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.390235960483551},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.3741196393966675},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.17215347290039062},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.11837831139564514},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.095648854970932},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.04999402165412903},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.24018/ejmed.2020.2.4.380","doi":"https://doi.org/10.24018/ejmed.2020.2.4.380","is_oa":true,"landing_page_url":"https://doi.org/10.24018/ejmed.2020.2.4.380","pdf_url":"https://ejmed.org/index.php/ejmed/article/download/380/218","source":{"id":"https://openalex.org/S4210203618","display_name":"European Journal of Medical and Health Sciences","issn_l":"2593-8339","issn":["2593-8339"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical and Health Sciences","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.24018/ejmed.2020.2.4.380","doi":"https://doi.org/10.24018/ejmed.2020.2.4.380","is_oa":true,"landing_page_url":"https://doi.org/10.24018/ejmed.2020.2.4.380","pdf_url":"https://ejmed.org/index.php/ejmed/article/download/380/218","source":{"id":"https://openalex.org/S4210203618","display_name":"European Journal of Medical and Health Sciences","issn_l":"2593-8339","issn":["2593-8339"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical and Health Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8560000061988831,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4240431331.pdf","grobid_xml":"https://content.openalex.org/works/W4240431331.grobid-xml"},"referenced_works_count":9,"referenced_works":["https://openalex.org/W1976644659","https://openalex.org/W2736745810","https://openalex.org/W2888159661","https://openalex.org/W2972536249","https://openalex.org/W3011129214","https://openalex.org/W3022272597","https://openalex.org/W3022273305","https://openalex.org/W3030997340","https://openalex.org/W3036387897"],"related_works":["https://openalex.org/W2736745810","https://openalex.org/W3193177909","https://openalex.org/W3111187736","https://openalex.org/W2938177817","https://openalex.org/W4401398131","https://openalex.org/W2413564911","https://openalex.org/W4390144003","https://openalex.org/W1538028490","https://openalex.org/W3090111325","https://openalex.org/W2774910216"],"abstract_inverted_index":{"Pigmentary":[0],"retinopathy":[1,69],"refers":[2],"to":[3],"a":[4,34,42,54,58],"group":[5],"of":[6,10,37,53,73],"inherited":[7],"degenerative":[8],"diseases":[9],"the":[11,16,20,51],"retina,":[12],"which":[13],"primarily":[14],"affects":[15],"photoreceptor":[17],"cells":[18],"in":[19],"retina.":[21],"The":[22],"association":[23],"with":[24,41,61],"congenital":[25,62],"hearing":[26],"loss":[27],"defines":[28],"Usher":[29,31,74],"syndrome.":[30,75],"syndrome":[32],"is":[33],"rare":[35],"pathology":[36],"autosomal":[38],"recessive":[39],"transmission":[40],"double":[43],"sensory":[44],"impairment":[45],"(auditory":[46],"and":[47,67],"visual).":[48],"We":[49],"report":[50],"observation":[52],"12-year-old":[55],"patient":[56],"from":[57],"consanguineous":[59],"marriage":[60],"deafness,":[63],"normal":[64],"vestibular":[65],"function":[66],"pigmentary":[68],"composing":[70],"type":[71],"2":[72]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2022-05-12T00:00:00"}