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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Figure 1

Sequence electropherograms of the identified PITX3 mutations. A. Sequence electropherograms of the four index patients with the recurrent c.640_656dup PITX3 mutation. B. Sequence electropherogram of the proband with the novel PITX3 mutation, c.573del. The reference sequence is displayed in blue on the top of each panel. Sequence electropherograms of the wild-type are shown at the bottom of each panel. The mutations are indicated with a red box.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172