Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E

Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E

BackgroundBrachydactyly type E (BDE) is characterized by variable shortening of metacarpals or metatarsals, often involving phalanges. It may occur as an isolated anomaly or as part of congenital syndromes. With advancements in molecular diagnostic technologies, how genetic testing enhances the prec...

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Bibliographic Details
Main Authors: Xueqian Wang, Shengzhuang Guan, Yiqing Gao, Rongrong Xie, Fengyun Wang, Xiuli Chen, Haiying Wu, Xiaohui Zhang, Dandan Zhang, Bingyu Yang, Qisang Fan, Qing Wang, Hongying Wang, Tao Feng, Haitao Lv, Ting Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Endocrinology
Subjects:
brachydactyly
genotype
phenotype
algorithm
children
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1571136/full
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https://www.frontiersin.org/articles/10.3389/fendo.2025.1571136/full

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