• A 12 Week Fetus with Anophthalmia, Limb Anomalies and Infratemporal Teratoma
• A 22q13.1 duplication in mosaicism including SOX10
• A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome
• A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
• A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I
• A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II
• A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child
• A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family
• A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
• A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy
• Acetylation reprograms MITF target selectivity and residence time
• An unusual iris in Waardenburg syndrome
• Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome
• Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome
• Association of autism spectrum disorder with Waardenburg syndrome in a toddler
• Association of type II Waardenburg syndrome with hypermetropic amblyopia
• Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A
• Auditory and speech outcomes of cochlear implantation in patients with Waardenburg syndrome: a meta-analysis
• Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
• Biallelic variants in PAX3 cause Klein syndrome
• Bilateral cochlear implantation in a child with Waardenburg syndrome: A case report
• Case report: Exotropia in waardenburg syndrome with novel variations
• Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
• Childhood Hearing Impairment in Senegal
• Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap
• Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review
• Clinical Significance of SOX10 Expression in Human Pathology
• Cochlear Implantation in Children with Additional Disabilities: A Systematic Review
• Cochlear implantation in Waardenburg syndrome: Systematic review and meta-analysis
• Commentary: Waardenburg syndrome: Genetics and ocular features
• Concurrent Cardiac and Renal Anomalies in Waardenburg Syndrome Type 1: A Report of a Rare Case
• Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
• Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
• Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by <em>SOX10</em> gene deletion
• Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion
• Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat
• Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10
• Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali
• Evaluation of hearing and speech rehabilitation after cochlear implantation in children with Waardenburg syndrome
• Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes
• Genetic etiology of hearing loss in Iran
• Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF
• Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene
• Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome
• Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series
• Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis
• Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review
• Hereditary hearing loss
• Heterochromia caused by Waardenburg syndrome in a 2-month-old infant
• Hétérochromie irienne causée par le syndrome de Waardenburg chez un nourrisson de 2 mois
• Hirschsprung disease
• Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the <em>SOX10</em> Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome
• Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome
• Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing
• Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing
• Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
• Iris Heterochromia and Choroidal Hypopigmentation in Waardenburg Syndrome
• Isolated Right Superior Vena Cava Drained to Left Atrium in a Child with Waardenburg Syndrome and Neurofibromatosis Type I
• Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea
• Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes
• Molecular etiology study of hearing loss in 13 Chinese Han families
• Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights
• Neurocognitive, Psychosocial, and Quality of Life Outcomes After Multisystem Inflammatory Syndrome in Children Admitted to the PICU
• Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation
• NR2F1 regulates a Schwann cell precursor-vs-melanocyte cell fate switch in a mouse model of Waardenburg syndrome type IV
• Ocular Manifestations in Patients with Sensorineural Hearing Loss
• Outcomes of Cochlear implantation in early-deafened patients with Waardenburg syndrome: A systematic review and narrative synthesis
• Pax3 deficiency diminishes melanocytes in the developing mouse cochlea
• PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome
• PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids
• Pfeiffer Syndrome
• Pfeiffer Syndrome
• Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
• Piebaldism
• Piebaldism
• PORCN-related microphthalmia with limb anomalies: Case report and literature review
• Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome
• Rhegmatogenous Retinal Detachment in Waardenburg Syndrome: A Case Report
• Role of Twins in Waardenburg Syndrome: 1916 - present/Twin Research Reviews: MZ Twins' Different Dermatoglyphics; Twins with Sagittal Suture Crainosynostosis; Blood Pressure in Female Twins; MZ Twins' Education and Political Knowledge/Media Repo
• RWC Update: Subretinal Cysticercosis; Pars Plana Vitrectomy for Proliferative Diabetic Retinopathy; Waardenburg Syndrome With Pseudo-Choroidal Melanocytosis
• Sox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model
• Sulfotransferase 4A1 Coding Sequence and Protein Structure Are Highly Conserved in Vertebrates
• Time-resolved quantitative proteomic analysis of the developing <em>Xenopus</em> otic vesicle reveals putative congenital hearing loss candidates
• Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers
• Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome
• Waardenburg Syndrome
• Waardenburg syndrome
• Waardenburg Syndrome
• Waardenburg syndrome
• Waardenburg syndrome
• Waardenburg Syndrome Type 1
• Waardenburg syndrome type 1 with unilateral glaucoma
• Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris
• Waardenburg Syndrome Type 2 in Paediatrics: A Case Highlighting Diagnostic Complexities and the Efficacy of Cochlear Implantation
• Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report
• Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report
• Waardenburg syndrome-associated neurotrophic keratopathy in a child treated with neurotization surgery
• Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants
• Waardenburg-Shah syndrome rare and challenging case report from Somalia
• White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF