Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

doi:10.1038/ejhg.2012.305

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Article

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

European journal of human genetics : EJHG - 1 Oct 2013

Travaglini Lorena, Brancati Francesco, Silhavy Jennifer, Iannicelli Miriam, Nickerson Elizabeth, Elkhartoufi Nadia, Scott Eric, Spencer Emily, Gabriel Stacey, Thomas Sophie, Ben-Zeev Bruria, Bertini Enrico, Boltshauser Eugen, Chaouch Malika, Cilio Maria Roberta, de Jong Mirjam M, Kayserili Hulya, Ogur Gonul, Poretti Andrea, Signorini Sabrina, Uziel Graziella, Zaki Maha S, Johnson Colin, Attié-Bitach Tania, Gleeson Joseph G, Valente Enza Maria

Abstract excerpt

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at...

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PMID: 23386033
DOI: 10.1038/ejhg.2012.305
PMCID: PMC3778343

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