Disease: Waardenburg syndrome type 2
- <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>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>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<sup>c.321dupC</sup> and SOX10<sup>c.325A>T</sup> 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