Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly

BackgroundWhole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in WDR35 gene leading to short-rib thoracic dysplasia 7 (SRTD7) with...

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Hauptverfasser:	Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2025-01-01
Schriftenreihe:	Frontiers in Pediatrics
Schlagworte:	whole exome sequencing chromosomal microarray analysis WDR35 NPHP4 etiology diagnosis
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fped.2024.1503455/full
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