Publication: Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
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Travaglini, L., Brancati, F., Silhavy, J., Iannicelli, M., Nickerson, E., Elkhartoufi, N., Scott, E., Spencer, E., Gabriel, S., Thomas, S., Ben-Zeev, B., Bertini, E., Boltshauser, E., Chaouch, M., Cilio, M. R., de Jong, M. M., Kayserili, H., Ogur, G., Poretti, A., … Valente, E. M. (2013). Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 21(10), 1074–1078. https://doi.org/10.1038/ejhg.2012.305
Abstract
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Abstract
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 nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 loc
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- 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
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Travaglini, L., Brancati, F., Silhavy, J., Iannicelli, M., Nickerson, E., Elkhartoufi, N., Scott, E., Spencer, E., Gabriel, S., Thomas, S., Ben-Zeev, B., Bertini, E., Boltshauser, E., Chaouch, M., Cilio, M. R., de Jong, M. M., Kayserili, H., Ogur, G., Poretti, A., … Valente, E. M. (2013). Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 21(10), 1074–1078. https://doi.org/10.1038/ejhg.2012.305
