Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping
Sign Up to like & getrecommendations! Published in 2019 at "Journal of biomedical informatics"
DOI: 10.1016/j.jbi.2019.103308
Abstract: Rare diseases are often hard and long to be diagnosed precisely, and most of them lack approved treatment. For some complex rare diseases, precision medicine approach is further required to stratify patients into homogeneous subgroups… read more here.
Keywords: research; similarity; rare disease; disease ... See more keywords
WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
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DOI: 10.15252/embr.201744632
Abstract: WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood. Here, we report that… read more here.
Keywords: hedgehog signalling; kallmann syndrome; ciliopathy; wdr11 ... See more keywords
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