Article

Prenatal Whole Exome Sequencing Reveals a Novel CDH1 Mutation Associated With Blepharo-Cheilo-Dontic Syndrome

2020-12-29

Abstract excerpt

<h4>Background: </h4> The cleft lip with or without palate (CL/P) is the most prevalent congenital craniofacial abnormality. This study aims to provide molecular diagnosis for patients with CL/P in a Chinese family, and then offer suggestions for future pregnancy for this family. <h4>Methods: </h4>: Karyotyping, single nucleotide polymorphism array analysis, whole-exome sequencing (WES), and Sanger sequencing were...

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Literature Corpus work: a954c809-e37c-5905-bdf5-5646f0c60249
DOI: 10.21203/rs.3.rs-135776/v1

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