Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

BACKGROUND: Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing...

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Detalles Bibliográficos
Autores principales: Yang, Guangxian, Yin, Yi, Tan, Zhiping, Liu, Jian, Deng, Xicheng, Yang, Yifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819242/
https://www.ncbi.nlm.nih.gov/pubmed/33478437
http://dx.doi.org/10.1186/s12920-021-00871-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819242/
https://www.ncbi.nlm.nih.gov/pubmed/33478437
http://dx.doi.org/10.1186/s12920-021-00871-9

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