| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8276290 | Journal of the Neurological Sciences | 2015 | 6 Pages |
Abstract
In summary, we confirm that high intra-familial variability of COL4A1 mutations with very mild phenotypes, the apparent incomplete penetrance, and de novo changes may become a “dilemma” for clinicians and genetic counselors.
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Authors
Elisa Giorgio, Giovanna Vaula, Giovanni Bosco, Sara Giacone, Cecilia Mancini, Alessandro Calcia, Simona Cavalieri, Eleonora Di Gregorio, Roberta Rigault De Longrais, Sabrina Leombruni, Lorenzo Pinessi, Paolo Cerrato, Alfredo Brusco, Alessandro Brussino,