Vafa Keser et al. present a Snap29 mutant mouse model that recapitulates neurological and ophthalmological abnormalities associated with CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) and 22q11.2 deletion syndrome. This study suggests a previously unexpected role for SNAP29 in male fertility.
- Vafa Keser
- Jean-François Boisclair Lachance
- Loydie A. Jerome-Majewska
