Robust Genetic Diagnosis of Split Hand-Foot Malformation by Exome Sequencing

ABSTRACT: Purpose: The present study aimed to evaluate the genetic diagnostic yield and accuracy of exome sequencing in Chinese patients with split hand–foot malformation (SHFM), a severe heterogeneous congenital anomaly characterized by hypodevelopment of the central ray of the hands and feet. Met...

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Bibliographic Details
Main Authors: Hengqing CUI, Zhengsheng CHEN, Li CHEN, Shengbo ZHOU, Yongkang JIANG, Xinyi DAI, Bin WANG
Format: Article
Language:English
Published: KeAi Communications Co. Ltd. 2020-03-01
Series:Chinese Journal of Plastic and Reconstructive Surgery
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2096691121000042