A Novel <i>CDH1</i> Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome

A Novel <i>CDH1</i> 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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Bibliographic Details
Main Authors: Bichen Lin, Yang Liu, Lanxin Su, Hangbo Liu, Hailan Feng, Miao Yu, Haochen Liu
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Diagnostics
Subjects:
<i>CDH1</i>
Blepharocheilodontic syndrome
gene variant
tooth agenesis
Online Access:https://www.mdpi.com/2075-4418/12/12/2936

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