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. 2020 Dec 21;108(1):100–114. doi: 10.1016/j.ajhg.2020.12.001

Figure 2.

Figure 2

CHD8 loss-of-function de novo mutations in individuals with CM1

(A) Representative sagittal (left) and axial (right) brain magnetic resonance images of CM1 probands with de novo CHD8 loss-of-function mutations.

(B) Pedigrees with Sanger-verified mutated bases for mothers (M), fathers (F), probands (P), and unaffected brothers (B1 and B2). Positions are with respect to GenBank: NM_001170629.2.