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Fig. 2 | BMC Medical Genetics

Fig. 2

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

Fig. 2

ALDH1A3 gene mutations associated with anopthalmia and microphthalmia. a Schematic representation of exons of the ALDH1A3 gene highlighting the positions of all disease causing mutations identified to date. b Domains of predicted protein product as described by Moretti and colleagues [11], highlighting the positions of all disease associated variants identified to date. Discrete color pattern of variants shows type of phenotype (red: anophthalmia, blue: micophthalmia and a combination of red and blue: both anophthalmia and microphthlamia

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