{"id":"https://openalex.org/W2402998339","doi":"https://doi.org/10.5414/cn108561","title":"Phenotypic heterogeneity in females with X-linked Alport syndrome","display_name":"Phenotypic heterogeneity in females with X-linked Alport syndrome","publication_year":2015,"publication_date":"2015-08-07","ids":{"openalex":"https://openalex.org/W2402998339","doi":"https://doi.org/10.5414/cn108561","mag":"2402998339","pmid":"https://pubmed.ncbi.nlm.nih.gov/26249550","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4928029"},"language":"en","primary_location":{"id":"doi:10.5414/cn108561","doi":"https://doi.org/10.5414/cn108561","is_oa":false,"landing_page_url":"https://doi.org/10.5414/cn108561","pdf_url":null,"source":{"id":"https://openalex.org/S16687455","display_name":"Clinical Nephrology","issn_l":"0301-0430","issn":["0301-0430"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310313675","host_organization_name":"Dustri-Verlag","host_organization_lineage":["https://openalex.org/P4310313675"],"host_organization_lineage_names":["Dustri-Verlag"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Nephrology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4928029","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013750327","display_name":"Samuel C. Allred","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Samuel C. Allred","raw_affiliation_strings":["University of North Carolina School of Medicine, Chapel Hill, NC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of North Carolina School of Medicine, Chapel Hill, NC","institution_ids":["https://openalex.org/I114027177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018204002","display_name":"Karen E. Weck","orcid":"https://orcid.org/0000-0002-8516-333X","observed_orcids":["https://orcid.org/0000-0002-8516-333X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Karen E. Weck","raw_affiliation_strings":["Department of Genetics, and","Department of Pathology and Laboratory Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, and","institution_ids":[]},{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111541710","display_name":"Adil Gasim","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Adil Gasim","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009128263","display_name":"Amy K. Mottl","orcid":"https://orcid.org/0000-0002-4258-1726","observed_orcids":["https://orcid.org/0000-0002-4258-1726"]},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]},{"id":"https://openalex.org/I1333535994","display_name":"University of North Carolina Health Care","ror":"https://ror.org/00qz24g20","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1333535994"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Amy K. Mottl","raw_affiliation_strings":["University of North Carolina Kidney Center, UNC School of Medicine, Chapel Hill, NC,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of North Carolina Kidney Center, UNC School of Medicine, Chapel Hill, NC,USA","institution_ids":["https://openalex.org/I114027177","https://openalex.org/I1333535994"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5009128263"],"corresponding_institution_ids":["https://openalex.org/I114027177","https://openalex.org/I1333535994"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.2525924,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":92,"max":97},"biblio":{"volume":"84 (2015)","issue":"11","first_page":"296","last_page":"300"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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":9.999999747378752e-05,"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/T10408","display_name":"Chronic Kidney Disease and Diabetes","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/x-linked-alport-syndrome","display_name":"X-linked Alport syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/phenotypic-heterogeneity","display_name":"phenotypic heterogeneity","score":0.9240000247955322},{"id":"https://openalex.org/keywords/female-carriers","display_name":"female carriers","score":0.7269999980926514},{"id":"https://openalex.org/keywords/skewed-x-inactivation","display_name":"X-inactivation skewing","score":0.8379999995231628},{"id":"https://openalex.org/keywords/type-iv-collagen","display_name":"type IV collagen","score":0.8529999852180481},{"id":"https://openalex.org/keywords/segmental-glomerulosclerosis","display_name":"segmental glomerulosclerosis","score":0.8709999918937683},{"id":"https://openalex.org/keywords/hematuria","display_name":"hematuria","score":0.753000020980835},{"id":"https://openalex.org/keywords/proteinuria","display_name":"proteinuria","score":0.9990000128746033},{"id":"https://openalex.org/keywords/end-stage-renal-disease","display_name":"end-stage renal disease","score":0.9449999928474426},{"id":"https://openalex.org/keywords/kidney-transplantation","display_name":"kidney transplantation","score":0.7850000262260437},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.3919999897480011},{"id":"https://openalex.org/keywords/family-history-medicine","display_name":"family history (medicine)","score":0.5230000019073486}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7982070446014404},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7484942674636841},{"id":"https://openalex.org/C2776908417","wikidata":"https://www.wikidata.org/wiki/Q1331116","display_name":"Alport syndrome","level":4,"score":0.729108452796936},{"id":"https://openalex.org/C2781087799","wikidata":"https://www.wikidata.org/wiki/Q7312483","display_name":"Renal biopsy","level":3,"score":0.5421477556228638},{"id":"https://openalex.org/C2779561371","wikidata":"https://www.wikidata.org/wiki/Q570197","display_name":"Proteinuria","level":3,"score":0.49802660942077637},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48541221022605896},{"id":"https://openalex.org/C2776494319","wikidata":"https://www.wikidata.org/wiki/Q76507","display_name":"Aunt","level":2,"score":0.4813293218612671},{"id":"https://openalex.org/C2778653478","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Kidney disease","level":2,"score":0.4582352936267853},{"id":"https://openalex.org/C2778415529","wikidata":"https://www.wikidata.org/wiki/Q1435223","display_name":"Focal segmental glomerulosclerosis","level":4,"score":0.44143760204315186},{"id":"https://openalex.org/C54847362","wikidata":"https://www.wikidata.org/wiki/Q177635","display_name":"Nephrology","level":2,"score":0.4355052709579468},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.42766839265823364},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3785257339477539},{"id":"https://openalex.org/C2780368995","wikidata":"https://www.wikidata.org/wiki/Q605006","display_name":"Glomerulonephritis","level":3,"score":0.32887834310531616},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.32479941844940186},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.27721741795539856},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.2747707962989807},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24638330936431885},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.1766931116580963},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09460097551345825},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C19165224","wikidata":"https://www.wikidata.org/wiki/Q23404","display_name":"Anthropology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D007676","descriptor_name":"Kidney Failure, Chronic","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024141","descriptor_name":"Collagen Type IV","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050533","descriptor_name":"Glomerular Basement Membrane","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.5414/cn108561","doi":"https://doi.org/10.5414/cn108561","is_oa":false,"landing_page_url":"https://doi.org/10.5414/cn108561","pdf_url":null,"source":{"id":"https://openalex.org/S16687455","display_name":"Clinical Nephrology","issn_l":"0301-0430","issn":["0301-0430"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310313675","host_organization_name":"Dustri-Verlag","host_organization_lineage":["https://openalex.org/P4310313675"],"host_organization_lineage_names":["Dustri-Verlag"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Nephrology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3910950","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4928029","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4928029","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4928029","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin Nephrol","raw_type":"Text"},{"id":"pmid:26249550","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26249550","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":"Clinical nephrology","raw_type":"Case Reports"},{"id":"pmh:cdr.lib.unc.edu:3t945z02f","doi":null,"is_oa":true,"landing_page_url":"https://doi.org/10.17615/wv55-8p55","pdf_url":"https://cdr.lib.unc.edu/downloads/v405sh660","source":{"id":"https://openalex.org/S4306401075","display_name":"Carolina Digital Repository (University of North Carolina at Chapel Hill)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I114027177","host_organization_name":"University of North Carolina at Chapel Hill","host_organization_lineage":["https://openalex.org/I114027177"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Nephrology, 84(5)","raw_type":"Article"},{"id":"doi:10.17615/wv55-8p55","doi":"https://doi.org/10.17615/wv55-8p55","is_oa":true,"landing_page_url":"https://doi.org/10.17615/wv55-8p55","pdf_url":null,"source":{"id":"https://openalex.org/S7407051488","display_name":"UNC Libraries","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:3910950","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4928029","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G2651404506","display_name":"Phenotypes of diabetic kidney disease and the relationship to retinal pathology","funder_award_id":"K23DK093804","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2402998339.pdf","grobid_xml":"https://content.openalex.org/works/W2402998339.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1659306006","https://openalex.org/W1973471682","https://openalex.org/W2018660197","https://openalex.org/W2026556151","https://openalex.org/W2031514024","https://openalex.org/W2058691614","https://openalex.org/W2101590985","https://openalex.org/W2103188558","https://openalex.org/W2106709135","https://openalex.org/W2127923616","https://openalex.org/W2128796050","https://openalex.org/W2131781415","https://openalex.org/W2138025953","https://openalex.org/W2144716193","https://openalex.org/W2147897335","https://openalex.org/W2156981627","https://openalex.org/W4236017938"],"related_works":["https://openalex.org/W4384948177","https://openalex.org/W7097500438","https://openalex.org/W2392548303","https://openalex.org/W2348490521","https://openalex.org/W2102597867","https://openalex.org/W4306929532","https://openalex.org/W2103188558","https://openalex.org/W3108205625","https://openalex.org/W7036106295","https://openalex.org/W2542342699"],"abstract_inverted_index":{"AIMS:":[0],"X-linked":[1],"Alport":[2],"syndrome":[3],"(AS)":[4],"is":[5,59],"a":[6,14,25,49,66,80,224],"monogenic":[7],"inherited":[8],"disorder":[9],"of":[10,39,42,57,68,79,84,93,138,175,190,209,218,228,235,253,264],"type":[11],"IV":[12],"collagen,":[13],"structural":[15],"protein":[16],"in":[17,76,126,148,200,257],"the":[18,40,55,77,94,127,139,149,157,173,188,193,219,232,251],"kidney":[19],"and":[20,53,74,90,103,136,163,195,239],"cochlea.":[21],"Males":[22],"typically":[23],"exhibit":[24,260],"severe":[26,51],"phenotype":[27,52],"with":[28,72,99,133,144],"end-stage":[29],"renal":[30,160],"disease":[31],"(ESRD)":[32],"and/or":[33],"deafness":[34],"by":[35,114,172],"early":[36],"adulthood.":[37],"Because":[38],"presence":[41],"two":[43],"X":[44],"chromosomes,":[45],"females":[46,258],"often":[47,60],"have":[48],"less":[50],"hence":[54],"diagnosis":[56],"AS":[58,210],"not":[61,112],"considered.":[62],"Herein,":[63],"we":[64],"present":[65],"case":[67,248],"an":[69],"adolescent":[70],"girl":[71],"proteinuria":[73,104],"hematuria":[75,102],"setting":[78],"strong":[81],"family":[82,197,208],"history":[83],"AL.":[85],"CASE":[86],"REPORT:":[87],"The":[88,246],"mother":[89,179],"maternal":[91],"aunt":[92],"proband":[95,194,220],"had":[96,120,204,211],"both":[97],"presented":[98],"dipstick":[100],"positive":[101,222],"at":[105,183],"age":[106,174,184],"8":[107],"years.":[108,177,186],"These":[109],"girls":[110],"were":[111,170,198,241],"evaluated":[113],"nephrology":[115],"until":[116],"mid-adolescence":[117],"when":[118],"they":[119],"worsening":[121],"creatinine":[122],"levels.":[123],"Kidney":[124,146],"biopsy":[125,147],"younger":[128],"sister":[129,151],"demonstrated":[130],"segmental":[131,134],"glomerulosclerosis":[132],"thinning":[135],"lamination":[137],"glomerular":[140],"basement":[141],"membrane,":[142],"consistent":[143],"AS.":[145],"older":[150],"was":[152,221],"performed":[153],"just":[154],"prior":[155],"to":[156],"need":[158],"for":[159,201,223,243],"replacement":[161],"therapy":[162],"showed":[164],"only":[165],"global":[166],"glomerulosclerosis.":[167],"Both":[168],"sisters":[169],"transplanted":[171],"20":[176],"Their":[178],"subsequently":[180],"developed":[181],"ESRD":[182],"53":[185],"With":[187],"advent":[189],"genetic":[191,216],"testing,":[192],"her":[196],"brought":[199],"evaluation.":[202],"It":[203],"been":[205],"assumed":[206],"this":[207],"autosomal":[212],"dominant":[213],"transmission,":[214],"however,":[215],"testing":[217],"splice":[225],"site":[226],"mutation":[227],"COL4A5":[229],"located":[230],"on":[231],"X-chromosome.":[233],"Sequencing":[234],"genes":[236],"COL4A3,":[237],"COL4A4,":[238],"COL4A6":[240],"negative":[242],"mutation.":[244],"CONCLUSIONS:":[245],"current":[247],"report":[249],"demonstrates":[250],"importance":[252],"considering":[254],"skewed":[255],"X-inactivation":[256],"who":[259],"signs":[261],"or":[262],"symptoms":[263],"Xlinked":[265],"disorders.":[266]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
