Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
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DOI: 10.3389/fgene.2022.931822
Abstract: Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating thoracic… read more here.
Keywords: phenotype; identical ift140; ciliopathy; patient ... See more keywords