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2,732 Newest Publications in american journal of medical genetics part a

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Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review

14-May-2010 | T. Simon, J. Kohlhase, C. Wilhelm, M. Kochanek, B. De Carolis, F. Berthold, American Journal of Medical Genetics Part A, 2010

RECQL4 mutations cause genetic instability and increase the risk of malignant disease. We report on a patient with compound heterozygosity for two novel RECQL4 mutations: mutation c.1919_1924delTCACAG, p.L640_A642delinsP in exon 12 of the RECQL4 gene and mutation c.1704+1G>A in intron 10 of the ...

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Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

11-May-2010 | Usha Kini, Jane A. Hurst, Jo C. Byren, Steven A. Wall, David Johnson, Andrew O.M. Wilkie, American Journal of Medical Genetics Part A, 2010

Metopic synostosis (MS) accounts for approximately 10-15% of all craniosynostosis and is etiologically heterogeneous. This study aimed to examine the causes of MS, as observed in a tertiary craniofacial unit. We reviewed the case notes of 110 children with a diagnosis of MS, attending the ...

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