Cargando…
Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2
Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2) can result from mutations within t...
Autores principales: | Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407046/ https://www.ncbi.nlm.nih.gov/pubmed/22848661 http://dx.doi.org/10.1371/journal.pone.0041927 |
Ejemplares similares
-
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
por: Pingault, Veronique, et al.
Publicado: (2022) -
Identification of nine novel variants across
PAX3
,
SOX10
,
EDNRB
, and
MITF
genes in Waardenburg syndrome with next‐generation sequencing
por: Lee, Chen‐Yu, et al.
Publicado: (2022) -
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
por: Wang, Jing, et al.
Publicado: (2021) -
Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers
por: Alkobtawi, Mansour, et al.
Publicado: (2023) -
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
por: Zardadi, Safoura, et al.
Publicado: (2021)