Skip to main content
. 2019 May 9;104(6):1040–1059. doi: 10.1016/j.ajhg.2019.03.024

Figure 1.

Figure 1

Facial Features and MRIs of Individuals Carrying Variants in HNRNPR

(A) Individual 1 (P1), who carries the heterozygous variant c.1609dupG (p.Ala537Glyfs∗10). The photographs were taken when the subject was 12 years of age.

(B) Individual 2 (P2), who carries the heterozygous variant c.1652dupG (p.Pro552Serfs∗34). The photographs were taken when the subject was 3 years of age.

(C) Individual 3 (P3), who carries the heterozygous variant c.1652dupG (p.Pro552Serfs∗34). The photographs were taken when the subject was 4 ¼ years of age.

(D) Magnetic resonance images (MRIs) of P2 taken when the subject was 1 week of age. A small cerebellum can be observed. Arrowheads indicate the frontal atrophy, and an arrow indicates the reduced corpus callosum.

(E) MRIs of P4 taken when the subject was 7 years and 10 months of age. An arrow indicates the reduced corpus callosum.