Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

@article{Zenker2007ExpansionOT,
  title={Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations},
  author={Martin Zenker and Katarina Lehmann and Anna Leana Schulz and Helmut Barth and Dagmar Hansmann and Rainer Koenig and Rudolf Korinthenberg and Martina Kreiss-Nachtsheim and Peter Meinecke and Susanne Morlot and Stefan Mundlos and Anne S. Quante and Salmo Raskin and Dirk Schnabel and Lars-Erik Wehner and Christian Peter Kratz and Denise Horn and Kerstin Kutsche},
  journal={Journal of Medical Genetics},
  year={2007},
  volume={44},
  pages={131 - 135}
}
Background: Noonan syndrome, cardio-facio-cutaneous syndrome (CFC) and Costello syndrome constitute a group of developmental disorders with an overlapping pattern of congenital anomalies. Each of these conditions can be caused by germline mutations in key components of the highly conserved Ras-MAPK pathway, possibly reflecting a similar pathogenesis underlying the three disorders. Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome and CFC… 
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It is demonstrated that KRAS mutations are the cause in a minority of cases of Chinese patients with Noonan syndrome in Taiwan.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
TLDR
The results indicate that the molecular and clinical overlap between CFC and NS is more complex than previously suggested and that the syndromes might even represent allelic disorders.
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TLDR
This work has screened this gene for mutations in 96 familial and sporadic, well-characterised NS patients and identified 15 different missense mutations in a total of 32 patients, including 23 index patients, which shows clinical similarities to NS.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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