• <em>GJB2</em> and <em>GJB6</em> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
• A 22q13.1 duplication in mosaicism including SOX10
• A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2
• A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10
• A clinical and genetic study of 16 Japanese families with Waardenburg syndrome
• A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients
• A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
• A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II
• A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
• A homozygous MITF mutation leads to familial Waardenburg syndrome type 4
• A Novel <em>PAX3</em> Mutation in a Chinese Family with Waardenburg Syndrome Type 1
• A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy
• A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II
• A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II
• A Novel Frameshift Variant of the <em>MITF</em> Gene in a Chinese Family with Waardenburg Syndrome Type 2
• A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2
• A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II
• A novel mutation of the <em>MITF</em> gene in a family with Waardenburg syndrome type 2: A case report
• A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report
• A Novel Pathogenic Variant in the <em>MITF</em> Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred
• A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1
• A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child
• A Novel Spontaneous Mutation of the <em>SOX10</em> Gene Associated with Waardenburg Syndrome Type II
• A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C&gt;T (p.Arg259*) in the <em>MITF</em> gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)
• A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy
• Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
• Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome
• Analysis of genetic characteristics in two Chinese children of type Ⅱ Waardenburg syndrome
• Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome
• Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II
• Anisometropic amblyopia in a case of type 2 Waardenburg syndrome
• Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome
• Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
• Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
• Childhood Hearing Impairment in Senegal
• Clinical and genetic investigation of families with type II Waardenburg syndrome
• Clinical and genetic investigation of families with Waardenburg syndrome type 2
• Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome
• Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies
• Corpus callosotomy for drug-resistant epilepsy in a pediatric patient with Waardenburg syndrome Type I
• De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II
• 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
• Dystrophia canthorum in Waardenburg syndrome with a novel <em>MITF</em> mutation
• EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state
• Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report
• First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination
• Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant
• Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2
• Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II
• Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2
• Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II
• Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation
• Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome
• Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II
• Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I
• Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing
• Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing
• Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
• Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing
• Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing
• Incomplete penetrance of MITF gene c.943C&gt;T mutation in an extended family with Waardenburg syndrome type II
• Kallmann Syndrome Due to Heterozygous Mutation in <em>SOX10</em> Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature
• Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome
• Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation
• New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing
• Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome
• Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome
• Outcome of Children With Intestinal Failure Due to Waardenburg Syndrome From an Intestinal Transplant Center: A Case Series
• Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome
• Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome
• Phenotypic similarities in pigs with SOX10^c.321dupC and SOX10^c.325A&gt;T mutations implied the correlation of SOX10 haploinsufficiency with Waardenburg syndrome
• Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation
• Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss
• Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2
• SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
• Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations
• Targeted next-generation sequencing identified a novel variant of <em>SOX10</em> in a Chinese family with Waardenburg syndrome type 2
• Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2
• Teaching NeuroImages: Waardenburg syndrome type 2
• The heterozygous <em>EDNRB</em> mutation in a Chinese family with Waardenburg syndrome type I
• Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
• Visual Dermatology: Waardenburg Syndrome Type II
• Waardenburg Syndrome
• Waardenburg Syndrome Expression and Penetrance
• Waardenburg syndrome type 2
• 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 2: an orthodontic perspective
• Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene
• Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene
• Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene
• Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene
• Waardenburg syndrome with dry eyes: A rare association
• Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports
• Waardenburg-Shah syndrome rare and challenging case report from Somalia
• Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome
• Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II
• Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness
• Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations