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. 2018 Sep 10;19:160. doi: 10.1186/s12881-018-0678-6

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© The Author(s). 2018

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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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