Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature

Abstract Background WDR35 variants are known to cause a rare autosomal recessive disorder-Cranioectodermal dysplasia (CED). The CED patients are commonly present with facial dysmorphisms (frontal bossing and low-set ears), sagittal craniosynostosis, growth retardation, dolichocephaly, skeletal defor...

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Hauptverfasser: Lijie Li (VerfasserIn), Cuihua Liu (VerfasserIn), Ming Tian (VerfasserIn), Guangbo Li (VerfasserIn), Jitong Li (VerfasserIn)
Format: Buch
Veröffentlicht: BMC, 2023-08-01T00:00:00Z.
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