Cochlear Implantation in Down Syndrome: Functional Outcomes, Challenges, and Management Strategies.

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.

Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

Reperfusion of Retinal Arteriolar Occlusion After Initiation of Immunosuppressive Therapy in Pediatric Susac Syndrome.

Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.

Identification of a novel PLS1 heterozygous variant causing autosomal dominant non-syndromic hearing loss.

Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Alport syndrome complicated with IgA nephropathy: a case report.

Renal Ultrasound in Patients With Preauricular Skin Tags: Is It Necessary and Who Needs It?

Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

Jacob's Syndrome and Hearing Loss: A Case Study.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report.

SOX10 Mutation of Waardenburg Syndrome With Hypogonadism: A Report of 2 Cases.

Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms.

Semicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging.

[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].

Onset of Ocular Abnormalities in Children with Hearing Loss.

Genetic diagnosis of macrotia in PIK3CA-Related Overgrowth Spectrum (PROS) and long-term outcome of otoplasty: a case report and literature review.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.

Multisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis.

Tips of family history taking in diagnosing Alport syndrome: a report of six cases.

ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice.

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP.

Acoustically Evoked Short Latency Negative Response and Vestibule Function in Patients With Enlarged Vestibular Aqueduct.

Genetics of Waardenburg Syndrome in Africa: A Systematic Review.

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F.

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.

Cochlear implantation in patients with CHARGE syndrome: a 10-year institutional experience and literature review.

Young man with progressive hearing loss and ocular motor abnormalities.

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Mitochondrial tRNA-Derived Diseases.

Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

Characterization of 843 children with Zika-related microcephaly in the first three years of life: An individual participant data meta-analysis of 12 cohorts in the Zika Brazilian Cohorts consortium.

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

[VEXAS syndrome mimicking relapsing polychondritis: A case report].

Increased in vivo transduction of AAV-9 cargo in Alport podocytes.

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Alport Syndrome: A Case of Delayed Diagnosis Through Genetic Testing.

Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

Whole-Exome Sequencing Identified a Nonsense Pathogenic Variant in the MITF Gene Associated with Non-syndromic Hearing Loss.

A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers.

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy.

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.

Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort.

Jacobsen Syndrome With White Matter Abnormalities: A Case Report and MRI Follow-Up.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Pathological PNPase variants with altered RNA binding and degradation activity affect the phenotype of bacterial and human cell models.

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Re-evaluating the MYH9 p.I1816V variant in a patient with atypical clinical presentation.

Expanding the Phenotype Spectrum of β-Mannosidosis.

Alezzandrini syndrome mimicking shingles - A rare case report with review of literature.

Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series.

16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.

Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.

Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.

Newborn Auditory Brainstem Response and Sudden Infant Death Syndrome.

Audiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Biomarkers of balance and gait deficits in FMR1 premutation carriers: a mini-review.

Auditory Outcomes in Patients Undergoing Orthognathic Surgery: An Analysis of Middle Ear Disease.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

LOXHD1b knockout alters swimming behavior in zebrafish.

Do variants in the CDH23 gene cause non-syndromic retinitis pigmentosa? Dual validation using whole exome sequencing and a zebrafish model.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Severe Macular Atrophy in an Infant With Neuromuscular Oculoauditory Syndrome.

A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome.

Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.

Effect of 2-Hydroxypropyl-γ-cyclodextrin on Renal Inflammation in Alport Mouse Model.

Adeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.

Structural Abnormalities of the Brain Detected by 7 Tesla MRI in Patients with Usher Syndrome.

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.

Impact of Tympanostomy Tube Placement on Hearing Outcomes in Children With Cleft Palate-Related Otitis Media: Retrospective Analysis of a Primary Single-Stage Cleft Palate Repair Cohort.

A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss.

The predawn dilemma in adeno-associated virus-based gene therapies for hereditary deafness.

Assessment of Balance Deficits in at Risk Pediatric Populations.

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Treatment Approaches for Alport Syndrome.

High frequency of balance abnormalities in Turner syndrome.

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay.

Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation.

Use of cartilage-conduction hearing aids in a child with Crouzon syndrome and meatal atresia.

Tailored Auditory Implantation in Inner Ear Malformations: A Long-Term Prospective Study Integrating Imaging and Functional Outcomes.

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.

Update on congenital stapes footplate fixation and juvenile otosclerosis.

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.

Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.

Update on diagnostic procedures in third window syndromes.

Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.

Collagen IV in Gould syndrome and Alport syndrome.

Short Assessment for People with Human Immunodeficiency Virus (HIV) Aged 50 Years or Older: Essential Tests from Comprehensive Geriatric Assessment.

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Feingold syndrome with GJB2 variants.

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).

TWNK gene pathogenic variant and Perrault syndrome.

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.

Clinical characteristics of patients with SALL1-related disorder.

Waardenburg Syndrome in a Family.

Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.

A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.

Liquid-Liquid Phase Separation in Hereditary Hearing Loss.

Congenital Nephrogenic Diabetes Insipidus Secondary to Antenatal Type IVa Bartter Syndrome.

Mutation of beta-tubulin 4B gene (TUBB4B) causes autosomal dominant retinitis pigmentosa with sensorineural hearing loss in a multigenerational family.

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

[Differential Diagnosis of Conductive Hearing Loss].

Perineural Invasion of the Facial Nerve Presenting as Rapid-Onset Excruciating Facial Pain and Paralysis.

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review.

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

Clinical Features and Outcomes of Pneumococcal Bacteremia in Children With Sickle Cell Disease in the Pneumococcal Conjugate Vaccine Era.

[Mechanisms of enhanced noise susceptibility in waardenburg syndrome Sox10 p.S100Rfs*9 mutant mice].

[Analysis and clinical characteristics of SLC26A4 gene mutations in 72 cases of large vestibular aqueduct syndrome].

Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort.

Ocular and auditory comorbidities in patients with vitiligo: A nationwide population-based study in the Republic of Korea.

Sensorineural deafness in a child with Prader-Willi Syndrome-A rare case report.

A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.

Targeted incorporation of collagen IV to the basement membrane: A step forward for developing extracellular protein therapies.

Well-Child Care: Newborns and Infants.

The cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients.

Results of Cochlear Implantation in Patients with Congenital Rubell-Retrospective Study.

Congenital Rubella Syndrome in the Post-Elimination Era: Why Vigilance Remains Essential.

A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome.

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Atypical Symptoms Following Concussion: A Comprehensive Review of Functional Deficits.

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.

Proteinuria in Alport Syndrome: Treatment With Sodium-Glucose Co-Transporter-2 (SGLT2) Inhibitors.

Cobalt toxicity from third-body wear following revision of fractured ceramic-on-ceramic hip bearings with a metal articulation : the fractured ceramic syndrome.

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice.

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Vestibular Evoked Myogenic Potentials and Wideband Acoustic Immittance as Screening Tools for Large Vestibular Aqueduct Syndrome.

Evidence of an unprecedented cytoplasmic function of DDX11, the Warsaw breakage syndrome DNA helicase, in regulating autophagy.

Comparison of Auditory Brainstem Response (ABR) findings in drug-naïve schizophrenia patients and healthy comparison subjects.

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report.

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.

Kidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in Japan.

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene.

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report.

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

A systematic review of congenital external ear anomalies and their associated factors.

Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2.

Bonebridge BCI 602 implantation in syndromic and non-syndromic patients with bilateral microtia and aural atresia.

Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

[Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome].

Kabuki Syndrome With Cardiac Manifestations: A Case Report and Mini-Literature Review From the United Arab Emirates (UAE).

Development of Maternal Antibodies Post ZIKV in Pregnancy is Associated with Lower Risk of Microcephaly and Structural Brain Abnormalities in Exposed Infants.

IQGAP3 deficiency leads to non-syndromic hearing loss via inhibition of CDC42 enzyme activity.

Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.

Etiology and outcomes of primary renal tubular acidosis.

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.

Using T7 endonuclease I to detect SLC26A4 mutations in children with large vestibular aqueduct syndrome, with or without Mondini malformation and assess cochlear implant outcomes.

Respiratory and airway disorders in children with Down Syndrome: a review of the clinical challenges and management.

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes.

Systematic Review of Management Strategies for Alport Syndrome: Implications for Male Patients.

Clinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome.

Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.

[Genetic analysis of primary ciliary dyskinesia caused by DNAH5 splicing site mutations].

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.

Stickler syndrome: associated musculoskeletal manifestations and first population-based incidence.

Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.

[A case report of Muenke syndrome with soft cleft palate and literature review].

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

Bilateral Vestibulopathy: What Can the Video Head Impulse Test Tell Us?

Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.