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Molecular Syndromology 2015, Vol. 6, No. 2
Editorial - Late Breaking Chromosomes
Gene Fusion due to Chromosome Misconnection May Seriously Affect Your Health
Mol Syndromol (2015) 6 (2): 55–57.
https://doi.org/10.1159/000381081
Original Article
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects
Mol Syndromol (2015) 6 (2): 58–62.
https://doi.org/10.1159/000371399
Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family
Judith M.A. Verhagen; Nicole de Leeuw; Dimitri N.M. Papatsonis; Els W.M. Grijseels; Ronald R. de Krijger; Marja W. Wessels
Mol Syndromol (2015) 6 (2): 71–76.
https://doi.org/10.1159/000431274
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia
Imane Cherkaoui Jaouad; Fatima Z. Laarabi; Siham Chafai Elalaoui; Stanislas Lyonnet; Alexandra Henrion-Caude; Abdelaziz Sefiani
Mol Syndromol (2015) 6 (2): 77–82.
https://doi.org/10.1159/000430970
Case Report
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
Júlia Hatagami Marques; Guilherme Lopes Yamamoto; Larissa de Cássia Testai; Alexandre da Costa Pereira; Chong Ae Kim; Maria R. Passos-Bueno; Débora Romeo Bertola
Mol Syndromol (2015) 6 (2): 87–90.
https://doi.org/10.1159/000407418
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome
Mol Syndromol (2015) 6 (2): 91–95.
https://doi.org/10.1159/000430429
Short Report
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7
Evgeny N. Suspitsin; Anna P. Sokolenko; Lydia V. Lyazina; Elena V. Preobrazhenskaya; Alla Y. Lepenchuk; Evgeny N. Imyanitov
Mol Syndromol (2015) 6 (2): 96–98.
https://doi.org/10.1159/000371408
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome
Koji Masuda; Kazuhiro Akiyama; Michiko Arakawa; Eriko Nishi; Noritaka Kitazawa; Tsukasa Higuchi; Yuki Katou; Katsuhiko Shirahige; Kosuke Izumi
Mol Syndromol (2015) 6 (2): 99–103.
https://doi.org/10.1159/000375542
