Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

doi:10.1016/j.ajhg.2010.04.012

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Article

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

American journal of human genetics - 11 Jun 2010

Walczak-Sztulpa Joanna, Eggenschwiler Jonathan, Osborn Daniel, Brown Desmond A, Emma Francesco, Klingenberg Claus, Hennekam Raoul C, Torre Giuliano, Garshasbi Masoud, Tzschach Andreas, Szczepanska Malgorzata, Krawczynski Marian, Zachwieja Jacek, Zwolinska Danuta, Beales Philip L, Ropers Hans-Hilger, Latos-Bielenska Anna, Kuss Andreas W

Abstract excerpt

Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. Most cases reported to date are sporadic, but a few familial cases support an autosomal-recessive inheritance pattern. Aiming at the elucidation of the genetic basis of CED, we co...

Topics

Adaptor Proteins, Signal Transducing
Child
Child, Preschool
Ciliary Motility Disorders
Craniofacial Abnormalities
Cytoskeletal Proteins
Ectodermal Dysplasia
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Mutation

Proteins

Source

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Identifiers

PMID: 20493458
DOI: 10.1016/j.ajhg.2010.04.012
PMCID: PMC3032067

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-20493458-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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