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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Fig. 1

A Pedigrees of the Pakistani families investigated, and genetic findings. A(i) and A(ii). Family 1 (Ai) and family 2 (Aii) pedigrees showing segregation of the variants identified in each case. B(i) and B(ii). Photographs of two affected individuals in both families with non-syndromic clinical anophthalmia C(i) and C(ii). Sequence chromatograms showing wild-type alongside ALDH1A3 [NM_000693.3:c.1240G > C, p.Gly414Arg; Chr15:101447332G > C (GRCh37)] in exon 11 (family 1), and, a frameshift mutation [NM_000693.3:c.172dup, p.Glu58Glyfs*5; Chr15:101425544dup (GRCh37)] variants

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