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. 2020 Nov 16;11:5816. doi: 10.1038/s41467-020-19658-0

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a Five-generation pedigree of a consanguineous Pakistani family with ten affected individuals (black-filled symbols). STR and single-nucleotide polymorphism marker haplotypes of all analyzed individuals are shown below each symbol. Diseased haplotype is marked as filled black bar. b Cerebral MRI scans of patient V-14, presenting with microcephaly and slanting forehead. c DNA sequence of homozygous control, heterozygous carrier and homozygous patient with c.465 G > C (p.W155C) mutation in exon 5 of RRP7A.