Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Various syndromes of the Ras-mitogen-activated protein kinase (MAPK) pathway, including the Noonan, Cardio-Facio-Cutaneous, LEOPARD and Costello syndromes, share the common features of craniofacial dysmorphisms, heart defect and short stature. In a subgroup of patients, severe muscle hypotonia, cent...

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Hauptverfasser: Kleefstra, Tjitske, Wortmann, Saskia B, Rodenburg, Richard J T, Bongers, Ernie M H F, Hadzsiev, Kinga, Noordam, Cees, van den Heuvel, Lambert P, Nillesen, Willy M, Hollody, Katalin, Gillessen-Kaesbach, Gabrielle, Lammens, Martin, Smeitink, Jan A M, van der Burgt, Ineke, Morava, Eva
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025797/
https://ncbi.nlm.nih.gov/pubmed/21063443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.171
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