A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome

The goal of the current study was to identify the pathogenic gene variant in a Chinese family with Blepharocheilodontic (BCD) syndrome. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variant. The harmfulness of the variant was predicted by bioinformatics...

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Detalles Bibliográficos
Autores principales: Lin, Bichen, Liu, Yang, Su, Lanxin, Liu, Hangbo, Feng, Hailan, Yu, Miao, Liu, Haochen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777284/
https://www.ncbi.nlm.nih.gov/pubmed/36552944
http://dx.doi.org/10.3390/diagnostics12122936

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777284/
https://www.ncbi.nlm.nih.gov/pubmed/36552944
http://dx.doi.org/10.3390/diagnostics12122936

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