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. 2015 May 24;3(5):467–480. doi: 10.1002/mgg3.158

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© 2015 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

PMC Copyright notice

Clinical and molecular findings in family SK-2 with Seckel syndrome. (A) Pedigree of the consanguineous family from Pakistan, front and lateral photographs and MRI images of the affected individual IV.2 at the age of 3 years. (B) Parametric linkage analysis of family SK-2. LOD scores were calculated with ALLEGRO, and the highest scores were obtained for markers on chromosomes 7 and 9. (C) Electropherograms of the identified homozygous CDK5RAP2 mutation (III.6 and IV.2) compared with heterozygous carrier (II.3, III.2, and III.3) and wild-type sequences (IV.1).