Preferred Label : Ciliopathies;

MeSH definition : Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA  and POLYDACTYLY are not examples of malformation that involve either the liver, eye or kidneys.; Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys.;

MeSH synonym : Ciliopathy;

Wikipedia link : https://en.wikipedia.org/wiki/Ciliopathies;

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Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA and POLYDACTYLY are not examples of malformation that involve either the liver, eye or kidneys.
Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys.

https://www.jle.com/fr/revues/mtg/e-docs/aspect_antenatal_des_ciliopathies_heterogeneite_clinique_et_genetique_285064/article.phtml
10.1684/mte.2010.0289
2010
false
true
false
France
French
journal article
Ciliopathies
Ciliopathies
Ciliopathies
Ciliopathies
prenatal diagnosis

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02/05/2025


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