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

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 deformities (...

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Detalles Bibliográficos
Autores principales: Li, Lijie, Liu, Cuihua, Tian, Ming, Li, Guangbo, Li, Jitong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436638/
https://www.ncbi.nlm.nih.gov/pubmed/37596520
http://dx.doi.org/10.1186/s12887-023-04110-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436638/
https://www.ncbi.nlm.nih.gov/pubmed/37596520
http://dx.doi.org/10.1186/s12887-023-04110-1

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