Multi‐Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family

ABSTRACT Background Cranioectodermal dysplasia (CED) is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, and ectodermal anomalies. Significant phenotypic heterogeneity often results in clinical overlap with other skeletal dysplasias, including Robinow syndrome. In consa...

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Detalhes bibliográficos

Principais autores:	Deema Aljeaid, Abdulrahman Almadiny, Khalidah K. Nasser, Mahmoud Almutadares, Noha M. Issa
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2026-05-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	computational genomics consanguinity cranioectodermal dysplasia 1 IFT122 protein modelling skeletal ciliopathy
Acesso em linha:	https://doi.org/10.1002/mgg3.70230
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