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Featured article: Rare CNV screening in ulcerative colitis

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Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

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Featured case report: Novel mutation linked to MODY

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This case reports a novel heterozygous missense mutation in the HNF-1α gene in a family with members affected by maturity onset diabetes of the young (MODY). The family also showed increased susceptibility to type 2 diabetes. The authors conclude that the presence of type 2 diabetes should not detract from the possibility of MODY in patients with family history.

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1. CASE REPORT

   First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

   María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro and Elena Domínguez-Garrido

   Published on: 13 December 2016
2. CASE REPORT

   Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

   Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn and Vorasuk Shotelersuk

   Published on: 12 December 2016
3. CASE REPORT

   Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report

   Yoshimasa Gohda, Rei Noguchi, Tomoko Horie, Toru Igari, Harumi Nakamura, Yasunori Ohta, Kiyoshi Yamaguchi, Tsuneo Ikenoue, Seira Hatakeyama, Nozomi Yusa, Yoichi Furukawa and Hideaki Yano

   Published on: 9 December 2016
4. RESEARCH ARTICLE

   A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease

   Tingyu Chen, Qianliao Wang, Guisen Li and Li Wang

   Published on: 9 December 2016
5. CASE REPORT

   A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

   Patrick R. Blackburn, Michael T. Zimmermann, Jennifer M. Gass, Kimberly G. Harris, Margot A. Cousin, Nicole J. Boczek, Owen A. Ross, Eric W. Klee, Paul W. Brazis, Jay A. Van Gerpen and Paldeep S. Atwal

   Published on: 5 December 2016

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