• <em>GJB2</em> and <em>GJB6</em> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
• 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
• A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan
• A clinical and genetic study of 16 Japanese families with Waardenburg syndrome
• A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease
• A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4
• A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
• A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice
• A homozygous MITF mutation leads to familial Waardenburg syndrome type 4
• A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene
• A novel <em>SOX10</em> variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
• A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy
• A Novel Frameshift Variant of the <em>MITF</em> Gene in a Chinese Family with Waardenburg Syndrome Type 2
• A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family
• A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome
• A novel mutation of the <em>MITF</em> 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 SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis
• A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
• A recalcitrant case of Jacquet erosive diaper dermatitis after surgery for Hirschsprung disease in a boy with Waardenburg-Shah syndrome
• A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics
• Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
• An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease
• Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome
• Association of type II Waardenburg syndrome with hypermetropic amblyopia
• Blepharophimosis ptosis epicanthus inversus syndrome (BPES) (corrected)
• Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
• Case of Waardenburg Shah syndrome in a family with review of literature
• Case report and diagnosis of Noonan syndrome with multiple lentigines with deafness as its main clinical feature
• Childhood Hearing Impairment in Senegal
• Clinical and genetic investigation of families with Waardenburg syndrome type 2
• Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome
• Corpus callosotomy for drug-resistant epilepsy in a pediatric patient with Waardenburg syndrome Type I
• Disease-causing enhancer variants: a question of penetrance
• Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome
• Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents
• EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome
• Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome
• Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation
• Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation
• Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father
• First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene
• Generation of a heterozygous SOX10 knockout human embryonic stem cell line using CRISPR/Cas9 technology
• Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV
• Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I
• Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II
• Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations
• Genetic characterization of a patient with an unusual presentation of Waardenburg syndrome Type 4 and retinoblastoma
• Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation
• Genetic, chromosomal, and syndromic causes of neural tube defects
• Hirschsprung disease: a developmental disorder of the enteric nervous system
• Hirschsprung's disease associated with alopecia universalis congenita: a case report
• Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV
• Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV
• 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 two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing
• 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
• Neural tube defects in Waardenburg syndrome: A case report and review of the literature
• Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
• Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation
• Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome
• Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome
• Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients
• NR2F1 regulates a Schwann cell precursor-vs-melanocyte cell fate switch in a mouse model of Waardenburg syndrome type IV
• Outcome of Children With Intestinal Failure Due to Waardenburg Syndrome From an Intestinal Transplant Center: A Case Series
• PAX3 gene deletion detected by microarray analysis in a girl with hearing loss
• Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene
• Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a 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
• Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals
• Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss
• Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10
• Shah-Waardenburg syndrome
• Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child
• SOX10 ablation severely impairs the generation of postmigratory neural crest from human pluripotent stem cells
• SOX10 mutation with peripheral amyelination and developmental disturbance of axons
• SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
• Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
• Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations
• Study of gene mutation and pathogenetic mechanism for a family with Waardenburg syndrome
• Targeted next-generation sequencing identified a novel variant of <em>SOX10</em> in a Chinese family with Waardenburg syndrome type 2
• The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report
• The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10
• The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome
• The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy
• Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4
• Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
• Waardenburg syndrome presenting with constipation since birth
• WAARDENBURG SYNDROME TYPE 1 AND A RARE FINDING OF ANAL ATRESIA
• Waardenburg syndrome type 2
• Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report
• Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain
• Waardenburg syndrome with dry eyes: A rare association
• Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum
• Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan
• Waardenburg-Shah syndrome rare and challenging case report from Somalia
• Waardenburg-Shah Syndrome: a rare case in an Indian child
• White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF
• Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II