{"id":"https://openalex.org/W2029420107","doi":"https://doi.org/10.1002/ajmg.a.30291","title":"The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype","display_name":"The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype","publication_year":2004,"publication_date":"2004-09-07","ids":{"openalex":"https://openalex.org/W2029420107","doi":"https://doi.org/10.1002/ajmg.a.30291","mag":"2029420107","pmid":"https://pubmed.ncbi.nlm.nih.gov/15378538"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.30291","doi":"https://doi.org/10.1002/ajmg.a.30291","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.30291","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","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/A5075112348","display_name":"Mustafa Tekin","orcid":"https://orcid.org/0000-0002-3525-7960","observed_orcids":["https://orcid.org/0000-0002-3525-7960"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Mustafa Tekin","raw_affiliation_strings":["Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey. mtekin@medicine.ankara.edu.tr","Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey. mtekin@medicine.ankara.edu.tr","institution_ids":["https://openalex.org/I149218525"]},{"raw_affiliation_string":"Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072780210","display_name":"Asl\u0131 Kavaz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Asl\u0131 Kavaz","raw_affiliation_strings":["Department of Pediatrics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046874152","display_name":"Merih Berbero\u011flu","orcid":"https://orcid.org/0000-0003-3102-0242","observed_orcids":["https://orcid.org/0000-0003-3102-0242"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Merih Berbero\u011flu","raw_affiliation_strings":["Division of Pediatric Endocrinology, Ankara University School of Medicine, Dikimevi, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Endocrinology, Ankara University School of Medicine, Dikimevi, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108530145","display_name":"Suat F\u00edt\u00f6z","orcid":"https://orcid.org/0000-0002-0180-0013","observed_orcids":["https://orcid.org/0000-0002-0180-0013"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Suat Fitoz","raw_affiliation_strings":["Department of Radiodiagnostics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiodiagnostics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023233189","display_name":"Mesiha Ekim","orcid":"https://orcid.org/0000-0001-9474-8084","observed_orcids":["https://orcid.org/0000-0001-9474-8084"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mesiha Ekim","raw_affiliation_strings":["Division of Pediatric Nephrology, Ankara University School of Medicine, Dikimevi, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nephrology, Ankara University School of Medicine, Dikimevi, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111106039","display_name":"G\u00f6n\u00fcl \u00d6\u00e7al","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"G\u00f6n\u00fcl \u00d6cal","raw_affiliation_strings":["Division of Pediatric Endocrinology, Ankara University School of Medicine, Dikimevi, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Endocrinology, Ankara University School of Medicine, Dikimevi, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5082504401","display_name":"Nejat Akar","orcid":"https://orcid.org/0000-0001-8228-8885","observed_orcids":["https://orcid.org/0000-0001-8228-8885"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Nejat Akar","raw_affiliation_strings":["Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5075112348"],"corresponding_institution_ids":["https://openalex.org/I149218525"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.2918,"has_fulltext":false,"cited_by_count":27,"citation_normalized_percentile":{"value":0.53118364,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"130A","issue":"3","first_page":"284","last_page":"287"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.391400009393692,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.391400009393692,"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/T11919","display_name":"dental development and anomalies","score":0.36469998955726624,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.07530000060796738,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/kbg-syndrome","display_name":"KBG syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.953000009059906},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8820000290870667},{"id":"https://openalex.org/keywords/cryptorchidism","display_name":"cryptorchidism","score":1.0},{"id":"https://openalex.org/keywords/skeletal-abnormalities","display_name":"skeletal abnormalities","score":0.9919999837875366},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.9940000176429749},{"id":"https://openalex.org/keywords/familial-case","display_name":"familial case","score":0.4779999852180481},{"id":"https://openalex.org/keywords/sex-ratio","display_name":"sex ratio","score":0.7950000166893005}],"concepts":[{"id":"https://openalex.org/C2910862020","wikidata":"https://www.wikidata.org/wiki/Q3454555","display_name":"Autosomal recessive inheritance","level":3,"score":0.694364607334137},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.6710494756698608},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.558661162853241},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5106201767921448},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5085843801498413},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.4425174593925476},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.4117773771286011},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32038384675979614},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3176465630531311},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10068365931510925}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014071","descriptor_name":"Tooth Abnormalities","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014421","descriptor_name":"Turkey","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.30291","doi":"https://doi.org/10.1002/ajmg.a.30291","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.30291","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:15378538","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15378538","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":"American journal of medical genetics. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","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":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1578740176","https://openalex.org/W1972901807","https://openalex.org/W1976339111","https://openalex.org/W1978668616","https://openalex.org/W1985773626","https://openalex.org/W2014341853","https://openalex.org/W2035492755","https://openalex.org/W2072460859","https://openalex.org/W2119453587","https://openalex.org/W2131457134","https://openalex.org/W2404104782","https://openalex.org/W2411392627","https://openalex.org/W2992230042"],"related_works":["https://openalex.org/W1970106939","https://openalex.org/W6984713867","https://openalex.org/W2014341853","https://openalex.org/W2061767880","https://openalex.org/W2389559269","https://openalex.org/W2062038417","https://openalex.org/W4213198553","https://openalex.org/W2411392627","https://openalex.org/W2131457134","https://openalex.org/W2072460859"],"abstract_inverted_index":{"We":[0],"report":[1,44],"on":[2],"a":[3,57],"Turkish":[4],"family":[5],"in":[6,29,53,66],"which":[7],"the":[8,18,26,48],"father":[9],"and":[10,40],"his":[11],"two":[12],"sons":[13],"were":[14,25],"diagnosed":[15],"as":[16],"having":[17],"KBG":[19,54],"syndrome.":[20],"Large":[21],"upper":[22],"central":[23],"incisors":[24],"diagnostic":[27],"finding":[28],"all":[30],"three":[31],"patients":[32],"along":[33],"with":[34],"mental":[35],"retardation,":[36],"cryptorchidism,":[37],"skeletal":[38],"abnormalities,":[39],"short":[41],"stature.":[42],"Our":[43],"clearly":[45],"confirms":[46],"that":[47],"inheritance":[49],"is":[50],"autosomal":[51],"dominant":[52],"syndrome,":[55],"although":[56],"high":[58],"male":[59],"to":[60],"female":[61],"ratio":[62],"has":[63],"been":[64],"observed":[65],"published":[67],"cases.":[68]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}