A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report
Abstract
Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal‑recessive disease that is characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded by six CED‑associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in the assembly, maintenance and function of primary cilia. The current study identified compound novel heterozygous...
Paper Details
Title
A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report
Published Date
Feb 1, 2021
Volume
21
Issue
4
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