{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T15:17:26Z","timestamp":1784647046439,"version":"3.55.0"},"reference-count":55,"publisher":"American Medical Association (AMA)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Otolaryngol Head Neck Surg"],"published-print":{"date-parts":[[2026,5,1]]},"abstract":"<jats:sec id=\"ab-ooi260003-4\">\n                    <jats:title>Importance<\/jats:title>\n                    <jats:p>Meniere disease (MD) is a heterogenous disorder whose underlying etiologies remain poorly understood. A subtype of MD characterized by endolymphatic sac (ES) underdevelopment (ES hypoplasia), frequent bilateral disease, and male predominance\u2014termed MD-hp\u2014has emerged as a promising model for genetic investigation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi260003-5\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To test whether the\n                      <jats:italic toggle=\"yes\">PHEX<\/jats:italic>\n                      gene underlies the association of XLH with MD-hp.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi260003-6\">\n                    <jats:title>Design, Setting, and Participants<\/jats:title>\n                    <jats:p>This prospective, cross-sectional, study was conducted at tertiary academic centers in the US (Boston, Massachusetts) and Switzerland (Zurich) from January 2021 to August 2024. Participants aged 18 years and older with XLH were recruited. Data were analyzed from October 2024 to August 2025.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi260003-7\">\n                    <jats:title>Exposure<\/jats:title>\n                    <jats:p>Diagnosis of XLH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi260003-8\">\n                    <jats:title>Main Outcomes and Measures<\/jats:title>\n                    <jats:p>\n                      The primary outcome was co-occurrence of XLH and MD-hp as compared with population prevalences. MD-hp assessment included pure-tone audiometry and speech-intelligibility testing, vestibular function testing via caloric and video head-impulse testing, symptom history indicating definite MD criteria, high-resolution computed tomography assessment of ES hypoplasia (angular trajectory of the vestibular aqueduct \u2265140\u00b0), delayed 3-dimensional fluid-attenuated inversion recovery magnetic resonance imaging for detection of endolymphatic hydrops, and\n                      <jats:italic toggle=\"yes\">PHEX<\/jats:italic>\n                      pathway gene sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi260003-9\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Given population prevalences of XLH (approximately 0.005%), MD (approximately 0.2%), and MD-hp (approximately 30% of MD), random co-occurrence would be approximately 1 in 33 million. In this cohort of 33 patients (10 male; mean [SD] age, 53.1 [13.0] years and 23 female; mean [SD] age, 46.2 [17.6] years), 6 (18.2%) met bilateral MD-hp criteria (approximately 1 in 5.5 patients)\u2014a more than 6 million\u2013fold enrichment. All 6 case patients were hemizygous males (including 2 males with fluctuating-progressive sensorineural hearing loss but no vertigo). Two additional hemizygous males younger than 40 years displayed bilateral ES hypoplasia without clinical MD, and 2 males with mosaic or hypomorphic\n                      <jats:italic toggle=\"yes\">PHEX<\/jats:italic>\n                      variants showed normal ES anatomy and no audiovestibular symptoms. No female carriers met MD-hp criteria; instead, 5 females exhibited mild to moderate, low- to mid-frequency sensorineural hearing loss without vertigo, and 2 females had isolated conductive hearing loss.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi260003-10\">\n                    <jats:title>Conclusions and Relevance<\/jats:title>\n                    <jats:p>\n                      These findings support an inner ear\u2013specific\n                      <jats:italic toggle=\"yes\">PHEX<\/jats:italic>\n                      gene-dosage threshold model for MD-hp penetrance; complete loss of function in hemizygous males leads to bilateral ES hypoplasia and MD, whereas mosaic or partial-loss variants in males\u2014and heterozygosity in females\u2014permit residual PHEX activity, resulting in milder or absent audiovestibular phenotypes. This genotype-endotype-phenotype linkage (complete PHEX loss, ES hypoplasia, and MD) enables early risk stratification and personalized surveillance and paves the way for targeted therapies in patients with XLH.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1001\/jamaoto.2026.0021","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T15:30:27Z","timestamp":1776353427000},"page":"452","source":"Crossref","is-referenced-by-count":1,"title":["Association of\n                    <i>PHEX<\/i>\n                    Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia"],"prefix":"10.1001","volume":"152","author":[{"given":"Paula","family":"Robles-Bolivar","sequence":"first","affiliation":[{"name":"Eaton-Peabody Laboratories, Mass Eye and Ear, Boston, Massachusetts"},{"name":"Otopathology Laboratory, Mass Eye and Ear, Boston Massachusetts"},{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"B\u00e4chinger","sequence":"additional","affiliation":[{"name":"University Hospital Zurich, University of Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpan","family":"Bose","sequence":"additional","affiliation":[{"name":"University Hospital Zurich, University of Zurich, Zurich, Switzerland"},{"name":"University of Massachusetts Chan Medical School, Worcester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Ramirez","sequence":"additional","affiliation":[{"name":"University Hospital Zurich, University of Zurich, Zurich, Switzerland"},{"name":"University of Massachusetts Chan Medical School, Worcester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Brown","sequence":"additional","affiliation":[{"name":"University Hospital Zurich, University of Zurich, Zurich, Switzerland"},{"name":"Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy F.","family":"Juliano","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts"},{"name":"Department of Radiology, Massachusetts Eye and Ear, Harvard Medical School, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Antonio","family":"Lopez-Escamez","sequence":"additional","affiliation":[{"name":"Meniere Disease Neuroscience Research Program, Faculty of Medicine and Health, School of Medical Sciences, The Kolling Institute, University of Sydney, Sydney, New South Wales, Australia"},{"name":"Otology and Neurotology Group CTS495, Division of Otolaryngology, Department of Surgery, Instituto de Investigaci\u00f3n Biosanitaria, Granada, Universidad de Granada, Granada, Spain"},{"name":"Sensorineural Pathology Programme, Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras, Ciberer, Madrid, Spain"},{"name":"Ear Science Institute Australia, Nedlands, Western Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon G.","family":"Kujawa","sequence":"additional","affiliation":[{"name":"Eaton-Peabody Laboratories, Mass Eye and Ear, Boston, Massachusetts"},{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva S.","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami S.","family":"Amr","sequence":"additional","affiliation":[{"name":"Department of Radiology, Massachusetts Eye and Ear, Harvard Medical School, Boston"},{"name":"Department of Pathology, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven D.","family":"Rauch","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas H.","family":"Eckhard","sequence":"additional","affiliation":[{"name":"Eaton-Peabody Laboratories, Mass Eye and Ear, Boston, Massachusetts"},{"name":"Otopathology Laboratory, Mass Eye and Ear, Boston Massachusetts"},{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya A.","family":"Chari","sequence":"additional","affiliation":[{"name":"Eaton-Peabody Laboratories, Mass Eye and Ear, Boston, Massachusetts"},{"name":"Otopathology Laboratory, Mass Eye and Ear, Boston Massachusetts"},{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts"},{"name":"University of Massachusetts Chan Medical School, Worcester"},{"name":"Department of Otolaryngology\u2013Head and Neck Surgery, University of Massachusetts Memorial Medical Center, Worcester"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"key":"ooi260003r1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2025.1607435","article-title":"A modern conceptual framework for study and treatment of Meniere\u2019s disease.","volume":"16","author":"Chari","year":"2025","journal-title":"Front Neurol"},{"issue":"1","key":"ooi260003r2","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1097\/WCO.0000000000001227","article-title":"Epidemiology and genetics of Meniere\u2019s disease.","volume":"37","author":"Lopez-Escamez","year":"2024","journal-title":"Curr Opin Neurol"},{"issue":"5","key":"ooi260003r3","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1002\/ohn.386","article-title":"Immune-related disorders associated with M\u00e9ni\u00e8re\u2019s disease: a systematic review and meta-analysis.","volume":"169","author":"Lopez-Escamez","year":"2023","journal-title":"Otolaryngol Head Neck Surg"},{"issue":"10","key":"ooi260003r4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0026759","article-title":"High prevalence of systemic autoimmune diseases in patients with M\u00e9ni\u00e8re\u2019s disease.","volume":"6","author":"Gazquez","year":"2011","journal-title":"PLoS One"},{"issue":"3","key":"ooi260003r5","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1016\/S0194-59989670204-8","article-title":"Allergic and immunologic aspects of Meniere\u2019s disease.","volume":"114","author":"Derebery","year":"1996","journal-title":"Otolaryngol Head Neck Surg"},{"issue":"1","key":"ooi260003r6","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1097\/00129492-200501000-00013","article-title":"Pathophysiology of Meniere\u2019s syndrome: are symptoms caused by endolymphatic hydrops?","volume":"26","author":"Merchant","year":"2005","journal-title":"Otol Neurotol"},{"issue":"5","key":"ooi260003r7","first-page":"648","article-title":"Serum antibodies against heat shock protein 70 in M\u00e9ni\u00e8re\u2019s disease.","volume":"16","author":"Rauch","year":"1995","journal-title":"Am J Otol"},{"issue":"4","key":"ooi260003r8","doi-asserted-by":"publisher","first-page":"658","DOI":"10.3109\/00016489209137456","article-title":"Ischemia of the endolymphatic sac.","volume":"112","author":"Lee","year":"1992","journal-title":"Acta Otolaryngol"},{"issue":"5","key":"ooi260003r9","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1016\/j.otc.2010.05.003","article-title":"Clinical hints and precipitating factors in patients suffering from Meniere\u2019s disease.","volume":"43","author":"Rauch","year":"2010","journal-title":"Otolaryngol Clin North Am"},{"issue":"2","key":"ooi260003r10","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1007\/s00401-018-1927-7","article-title":"Inner ear pathologies impair sodium-regulated ion transport in Meniere\u2019s disease.","volume":"137","author":"Eckhard","year":"2019","journal-title":"Acta Neuropathol"},{"issue":"5","key":"ooi260003r11","doi-asserted-by":"publisher","first-page":"e548","DOI":"10.1097\/MAO.0000000000002198","article-title":"Vestibular aqueduct morphology correlates with endolymphatic sac pathologies in M\u00e9ni\u00e8re\u2019s disease-a correlative histology and computed tomography study.","volume":"40","author":"B\u00e4chinger","year":"2019","journal-title":"Otol Neurotol"},{"key":"ooi260003r12","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.674170","article-title":"Radiological configuration of the vestibular aqueduct predicts bilateral progression in Meniere\u2019s disease.","volume":"12","author":"B\u00e4chinger","year":"2021","journal-title":"Front Neurol"},{"issue":"9","key":"ooi260003r13","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.3174\/ajnr.A8339","article-title":"Retrolabyrinthine bone thickness as a radiologic marker for the hypoplastic endotype in Meni\u00e8re disease.","volume":"45","author":"Juliano","year":"2024","journal-title":"AJNR Am J Neuroradiol"},{"key":"ooi260003r14","doi-asserted-by":"publisher","first-page":"303","DOI":"10.3389\/fneur.2019.00303","article-title":"Endotype-phenotype patterns in Meniere\u2019s disease based on gadolinium-enhanced MRI of the vestibular aqueduct.","volume":"10","author":"B\u00e4chinger","year":"2019","journal-title":"Front Neurol"},{"issue":"1","key":"ooi260003r15","doi-asserted-by":"publisher","first-page":"151","DOI":"10.3174\/ajnr.A8933","article-title":"Postnatal development of the vestibular aqueduct trajectory on CT: establishing age-specific norms to distinguish normal from arrested (hypoplastic) development.","volume":"47","author":"Juliano","year":"2026","journal-title":"AJNR Am J Neuroradiol"},{"issue":"7","key":"ooi260003r16","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1002\/jbmr.340","article-title":"A clinician\u2019s guide to X-linked hypophosphatemia.","volume":"26","author":"Carpenter","year":"2011","journal-title":"J Bone Miner Res"},{"issue":"7","key":"ooi260003r17","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/s41581-019-0152-5","article-title":"Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.","volume":"15","author":"Haffner","year":"2019","journal-title":"Nat Rev Nephrol"},{"issue":"3","key":"ooi260003r18","doi-asserted-by":"publisher","first-page":"152.e1","DOI":"10.1016\/j.medcle.2021.07.026","article-title":"Clinical practice recommendations for the diagnosis and treatment of X-linked hypophosphatemia: a consensus based on the ADAPTE method.","volume":"159","author":"Gonz\u00e1lez-Lamu\u00f1o","year":"2022","journal-title":"Med Clin (Barc)"},{"issue":"21","key":"ooi260003r19","doi-asserted-by":"publisher","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","article-title":"Burosumab therapy in children with X-linked hypophosphatemia.","volume":"378","author":"Carpenter","year":"2018","journal-title":"N Engl J Med"},{"issue":"2","key":"ooi260003r20","doi-asserted-by":"publisher","first-page":"230","DOI":"10.7326\/0003-4819-100-2-230","article-title":"Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.","volume":"100","author":"Davies","year":"1984","journal-title":"Ann Intern Med"},{"issue":"10","key":"ooi260003r21","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1007\/s00431-004-1504-z","article-title":"Hearing impairment in familial X-linked hypophosphatemic rickets.","volume":"163","author":"Fishman","year":"2004","journal-title":"Eur J Pediatr"},{"issue":"1","key":"ooi260003r22","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1017\/S0022215107001636","article-title":"Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia.","volume":"123","author":"Pantel","year":"2009","journal-title":"J Laryngol Otol"},{"key":"ooi260003r24","first-page":"65","article-title":"Clinical nystagmography. A detailed study of electro-nystagmography in 341 patients with vertigo.","volume":"24","author":"Jongkees","year":"1962","journal-title":"Pract Otorhinolaryngol (Basel)"},{"key":"ooi260003r25","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.948462","article-title":"VOR gain of lateral semicircular canal using video head impulse test in acute unilateral vestibular hypofunction: A systematic review.","volume":"13","author":"Alfarghal","year":"2022","journal-title":"Front Neurol"},{"issue":"3","key":"ooi260003r26","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1097\/MLG.0b013e31802c300c","article-title":"Visualization of endolymphatic hydrops in patients with Meniere\u2019s disease.","volume":"117","author":"Nakashima","year":"2007","journal-title":"Laryngoscope"},{"issue":"3","key":"ooi260003r27","doi-asserted-by":"publisher","first-page":"338","DOI":"10.3109\/00016480903143986","article-title":"Endolymphatic hydrops revealed by intravenous gadolinium injection in patients with M\u00e9ni\u00e8re\u2019s disease.","volume":"130","author":"Nakashima","year":"2010","journal-title":"Acta Otolaryngol"},{"issue":"5","key":"ooi260003r28","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1007\/s00330-008-0854-8","article-title":"Separate visualization of endolymphatic space, perilymphatic space and bone by a single pulse sequence; 3D-inversion recovery imaging utilizing real reconstruction after intratympanic Gd-DTPA administration at 3 Tesla.","volume":"18","author":"Naganawa","year":"2008","journal-title":"Eur Radiol"},{"issue":"4","key":"ooi260003r29","doi-asserted-by":"publisher","first-page":"303","DOI":"10.2463\/mrms.11.303","article-title":"Imaging of M\u00e9ni\u00e8re\u2019s disease by subtraction of MR cisternography from positive perilymph image.","volume":"11","author":"Naganawa","year":"2012","journal-title":"Magn Reson Med Sci"},{"issue":"4","key":"ooi260003r30","doi-asserted-by":"publisher","first-page":"357","DOI":"10.2463\/mrms.tn.2016-0126","article-title":"Improved HYDROPS: imaging of endolymphatic hydrops after intravenous administration of gadolinium.","volume":"16","author":"Naganawa","year":"2017","journal-title":"Magn Reson Med Sci"},{"issue":"4","key":"ooi260003r31","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1007\/s00234-019-02155-7","article-title":"The value of four stage vestibular hydrops grading and asymmetric perilymphatic enhancement in the diagnosis of Meni\u00e8re\u2019s disease on MRI.","volume":"61","author":"Bernaerts","year":"2019","journal-title":"Neuroradiology"},{"issue":"1","key":"ooi260003r32","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3233\/VES-150549","article-title":"Diagnostic criteria for Meni\u00e8re\u2019s disease.","volume":"25","author":"Lopez-Escamez","year":"2015","journal-title":"J Vestib Res"},{"issue":"5","key":"ooi260003r34","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"W1","key":"ooi260003r35","doi-asserted-by":"publisher","first-page":"W350","DOI":"10.1093\/nar\/gky300","article-title":"DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability.","volume":"46","author":"Rodrigues","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"ooi260003r36","doi-asserted-by":"publisher","DOI":"10.1177\/23312165231162727","article-title":"Hearing thresholds for unscreened U.S. adults: data from the National Health and Nutrition Examination survey, 2011-2012, 2015-2016, and 2017-2020.","volume":"27","author":"Humes","year":"2023","journal-title":"Trends Hear"},{"issue":"5","key":"ooi260003r38","doi-asserted-by":"publisher","first-page":"595","DOI":"10.3174\/ajnr.A7842","article-title":"A novel MR imaging sequence of 3D-ZOOMit real inversion-recovery imaging improves endolymphatic hydrops detection in patients with M\u00e9ni\u00e8re disease.","volume":"44","author":"Li","year":"2023","journal-title":"AJNR Am J Neuroradiol"},{"issue":"1","key":"ooi260003r39","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.amjoto.2016.09.014","article-title":"Treatment of ear and bone disease in the Phex mouse mutant with dietary supplementation.","volume":"38","author":"Wick","year":"2017","journal-title":"Am J Otolaryngol"},{"issue":"1","key":"ooi260003r40","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s12929-023-00959-7","article-title":"Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism.","volume":"30","author":"Sun","year":"2023","journal-title":"J Biomed Sci"},{"key":"ooi260003r41","doi-asserted-by":"publisher","DOI":"10.1038\/msb4100036","article-title":"Threshold responses to morphogen gradients by zero-order ultrasensitivity.","volume":"1","author":"Melen","year":"2005","journal-title":"Mol Syst Biol"},{"issue":"1","key":"ooi260003r42","doi-asserted-by":"publisher","first-page":"1825","DOI":"10.1038\/s41467-018-03621-1","article-title":"Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.","volume":"9","author":"Barbeira","year":"2018","journal-title":"Nat Commun"},{"issue":"2","key":"ooi260003r43","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/BF00219313","article-title":"On the nature of the Duchenne muscular dystrophy locus: a portion of a complex of related gene clusters of recent pseudoautosomal origin?","volume":"81","author":"Infante","year":"1988","journal-title":"Mol Cell Biochem"},{"issue":"1","key":"ooi260003r44","doi-asserted-by":"publisher","first-page":"21547","DOI":"10.1038\/s41598-023-48982-w","article-title":"Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.","volume":"13","author":"Sarker","year":"2023","journal-title":"Sci Rep"},{"issue":"3","key":"ooi260003r45","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1007\/s004390050698","article-title":"X chromosome-inactivation patterns in patients with Rett syndrome.","volume":"102","author":"Krepischi","year":"1998","journal-title":"Hum Genet"},{"issue":"3","key":"ooi260003r46","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1111\/j.1399-0004.2007.00944.x","article-title":"Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.","volume":"73","author":"Takahashi","year":"2008","journal-title":"Clin Genet"},{"issue":"1","key":"ooi260003r47","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1186\/s13023-021-01729-0","article-title":"Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.","volume":"16","author":"Rodr\u00edguez-Rubio","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"ooi260003r48","first-page":"293","article-title":"X-linked hypophosphatemia in Polish patients. Mutations in the PHEX gene.","volume":"41","author":"Popowska","year":"2000","journal-title":"J Appl Genet"},{"issue":"8","key":"ooi260003r49","doi-asserted-by":"publisher","first-page":"3889","DOI":"10.1210\/jcem.86.8.7761","article-title":"Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.","volume":"86","author":"Holm","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"ooi260003r50","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1007\/s00223-020-00784-2","article-title":"Does Genotype-phenotype correlation exist in vitamin D-dependent Rickets type IA: report of 13 new cases and review of the literature.","volume":"108","author":"Kaygusuz","year":"2021","journal-title":"Calcif Tissue Int"},{"key":"ooi260003r51","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.699767","article-title":"Genotype and phenotype analysis in x-linked hypophosphatemia.","volume":"9","author":"Park","year":"2021","journal-title":"Front Pediatr"},{"issue":"6","key":"ooi260003r52","doi-asserted-by":"publisher","first-page":"981","DOI":"10.3346\/jkms.2007.22.6.981","article-title":"PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.","volume":"22","author":"Song","year":"2007","journal-title":"J Korean Med Sci"},{"issue":"1-2","key":"ooi260003r53","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/j.heares.2008.01.002","article-title":"A mouse model with postnatal endolymphatic hydrops and hearing loss.","volume":"237","author":"Megerian","year":"2008","journal-title":"Hear Res"},{"issue":"3","key":"ooi260003r54","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1007\/s40136-014-0048-7","article-title":"A genetic murine model of endolymphatic hydrops: the phex mouse.","volume":"2","author":"Wick","year":"2014","journal-title":"Curr Otorhinolaryngol Rep"},{"issue":"12","key":"ooi260003r55","doi-asserted-by":"publisher","first-page":"2317","DOI":"10.1002\/jbmr.4443","article-title":"Conductive hearing loss in the hyp mouse model of X-Linked hypophosphatemia is accompanied by hypomineralization of the auditory ossicles.","volume":"36","author":"Delsmann","year":"2021","journal-title":"J Bone Miner Res"},{"key":"ooi260003r23","volume-title":"International XLH evidence-based guidelines","author":"Insogna","year":"2020"},{"key":"ooi260003r33","author":"Bose"},{"key":"ooi260003r37","unstructured":"Bose? A, Robles-Bolivar? P, Juliano? AF, . Endolymphatic sac hypoplasia exists along a continuum of pathology and correlates with the timing of Meniere\u2019s disease onset. Otolaryngol Head Neck Surg. Published online 2025."}],"container-title":["JAMA Otolaryngology\u2013Head &amp; Neck Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamaotolaryngology\/articlepdf\/2847814\/jamaotolaryngology_roblesbolivar_2026_oi_260003_1778044150.33659.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T15:00:34Z","timestamp":1778770834000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamaotolaryngology\/fullarticle\/2847814"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,1]]},"references-count":55,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamaoto.2026.0021","relation":{},"ISSN":["2168-6181"],"issn-type":[{"value":"2168-6181","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5,1]]}}}