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Mowat-Wilson syndrome presenting with fever-associated seizures Volume 19, numéro 4, December 2017

Figure 1

Distinctive facial characteristics of Patient 1 with Mowat-Wilson syndrome. The patient shows characteristic facial features of Mowat-Wilson syndrome, including large eyebrows with medial flaring, hypertelorism, telecanthus, a broad nasal bridge, a prominent chin, and a prominent columella.

Figure 2

Results from targeted NGS using an epilepsy gene panel for Patient 1. c.1956C>A (p.Tyr652Ter) (NM14795.3) Var %: 50.5 (heterozygote); depth: 622.