How to Cite this Article: Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K. 2012. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I Am J Med Genet Part A. 158A:1455–1461.
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I†
Article first published online: 11 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1455–1461, June 2012
How to Cite
Abdel-Salam, G. M.H., Abdel-Hamid, M. S., Issa, M., Magdy, A., El-Kotoury, A. and Amr, K. (2012), Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. Am. J. Med. Genet., 158A: 1455–1461. doi: 10.1002/ajmg.a.35356
- Issue published online: 17 MAY 2012
- Article first published online: 11 MAY 2012
- Manuscript Accepted: 2 FEB 2012
- Manuscript Received: 1 DEC 2011
Additional Supporting Information may be found in the online version of this article.
|ajmg_35356_sm_SupplFig1.tif||374K||eFigure 1: Portion of the sequencing electropherogram for Patient 1 and his parents showing the two novel heterozygous mutations. (A) The patient and his mother had a novel g.66G>C mutation. This sequence was normal in his father. (B) Sequence analysis of the RNU4ATAC gene showed a heterozygous mutation, g.124G>A in both the patient and his father. (C) 3' Stem-loop region of the U4atac snRNA, nucleotide conservation across species from http://www.genome.ucsc.edu: Kent et al. [2002[. Mutation positions g.66G and g.124G are boxed in red.|
|ajmg_35356_sm_SupplFig2.tif||147K||eFigure 2: Part of the sequencing electropherogram showing the g.55G>A mutation identified in Patient 3 and her parents. The arrow indicates the site of mutation.|
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