EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23206
Abstract: Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from… read more here.
Keywords: waardenburg syndrome; cause waardenburg; mutations cause; type ... See more keywords
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1128
Abstract: Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families. read more here.
Keywords: identification six; syndrome type; waardenburg syndrome; six novel ... See more keywords
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1217
Abstract: The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. read more here.
Keywords: pax3 sox10; novel mutations; mutations pax3; waardenburg syndrome ... See more keywords
Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2082
Abstract: Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the… read more here.
Keywords: nine novel; novel variants; identification nine; variants across ... See more keywords
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02301-3
Abstract: Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and genetic features in 90 Chinese WS probands. Disease-causing variants were detected in 55… read more here.
Keywords: genotype phenotype; chinese probands; phenotype relationships; waardenburg syndrome ... See more keywords
The blue-eyed man: A case of Waardenburg syndrome type 1 associated with mania and autistic spectrum disorder
Sign Up to like & getrecommendations! Published in 2017 at "European Psychiatry"
DOI: 10.1016/j.eurpsy.2017.01.383
Abstract: Waardenburg syndrome (WS) is a rare genetic disorder characterised by varying degrees of sensorineural deafness, dystopia canthorum, musculokeletal defects, pigmentation anomalies such as bright blue iris, greying hair and in some cases intestinal pathology. A… read more here.
Keywords: disorder; blue eyed; spectrum disorder; waardenburg syndrome ... See more keywords
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
Sign Up to like & getrecommendations! Published in 2017 at "Gene"
DOI: 10.1016/j.gene.2016.12.037
Abstract: BACKGROUND Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency.… read more here.
Keywords: pax3; spontaneous novel; waardenburg syndrome; mutant mouse ... See more keywords
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.03.016
Abstract: BACKGROUND Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or… read more here.
Keywords: waardenburg syndrome; distinctive phenotypic; directed genetic; sox10 ... See more keywords
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.09.029
Abstract: Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type… read more here.
Keywords: mutations causing; waardenburg syndrome; pax3 mutations; novel pax3 ... See more keywords
Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2020.110172
Abstract: Waardenburg Syndrome (WS) is a condition characterized by sensorineural deafness and pigment disturbances of the skin, hair and iris. By using the latest genomics technology, the WS-related gene mutations and corresponding mechanisms have been widely… read more here.
Keywords: sox10 gene; novel mutations; waardenburg syndrome; gene chinese ... See more keywords
Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Gene therapy"
DOI: 10.1038/s41434-021-00240-2
Abstract: Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for approximately 2-5% of all patients with congenital hearing loss. WS is classified into four… read more here.
Keywords: disease mechanisms; insights disease; waardenburg syndrome; mechanisms biological ... See more keywords