Ciliopathies: Coloring outside of the lines.

doi:10.1002/ajmg.a.62013

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Article

Ciliopathies: Coloring outside of the lines.

American journal of medical genetics. Part A - 1 Mar 2021

Strong Alanna, Li Dong, Mentch Frank, Bedoukian Emma, Hartung Erum A, Meyers Kevin, Skraban Cara, Wen Jessica, Medne Livija, Glessner Joseph, Watson Deborah, Krantz Ian, Hakonarson Hakon

Abstract excerpt

Ciliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of system involvement, ciliopathy syndromes are known to display certain phenotypic overlap. We performed next-generation...

Topics

Abnormalities, Multiple
Adult
Chaperonins
Child
Child, Preschool
Ciliopathies
Cytoplasmic Dyneins
Cytoskeletal Proteins
Female
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intracellular Signaling Peptides and Proteins

Male

Microtubule-Associated Proteins

Mutation

Phenotype

Prognosis

Source

Open in PubMed Open full text

Identifiers

PMID: 33369054
DOI: 10.1002/ajmg.a.62013
PMCID: PMC7898607

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-33369054-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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