Letter to the EditorA novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding
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Declarations of Competing Interest
The authors declare no conflict of interest.
Funding
This study is partially supported by the Program for an Integrated Database of Clinical and Genomic Information (17kk0205012h0002 to Y.G.) and Construction of integrated database of clinical and genomics information and sustainable system for promoting genomic medicine in Japan (19kk0205012s0004 to Y.G.; JP19ek0109285h0003 (A.I., Y.G.)) from the Japan Agency for Medical Research and Development, AMED, and the Intramural Research Grants (30-7 to Y.G.; 30-9 to A.I. for Neurological and
Ethical standards
Clinical information and samples from the patient and her parents were obtained with informed consent. This study was approved by the ethical committee of NCNP (A2012–091).
Acknowledgements
We thank Yoko Nakamura of the Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, for providing expert technical assistance in the array CGH analysis.
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The authors contributed equally.