Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Date
2015Author
Phelps, I. G.
RAMADEVI, Radha A.
Tuysuz, Beyhan
ALSWAID, A.
Ozyurek, H.
Haliloglu, G.
Topcu, M.
Chance, P.
PARISI, M. A.
Glass, I. A.
Bachmann-Gagescu, R.
Dempsey, J. C.
O'Day, D.
de Lacy, N.
Boyle, E. A.
ADKINS, J.
GORDEN, N.
Isabella, C. R.
ISHAK, G. E.
Rue, T. C.
KNUTZEN, D. M.
O'ROAK, B. J.
Shendure, J.
Doherty, D.
LINGAPPA, L.
Lourenco, C.
MARTORELL, L.
GARCIA-CAZORLA, A.
Metadata
Show full item recordAbstract
Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. This study provides a comprehensive view of the current genetic basis, phenotypic range and gene-phenotype associations in JS.
Collections
- Makale [92796]