Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole‐exome sequencing

IMPORTANCE: First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level. OBJECTIVE: To identify genomic alterations related to the genetic etiolo...

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Detalles Bibliográficos
Autores principales: Yang, Yeran, Liu, Wei, Jin, Yaqiong, Chen, Min, Lu, Jie, Yu, Yongbo, Ren, Huimin, Han, Shujing, Chu, Ping, Guo, Yongli, Zhang, Jie, Ni, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8458719/
https://www.ncbi.nlm.nih.gov/pubmed/34589676
http://dx.doi.org/10.1002/ped4.12263

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