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Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination

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The authors would like to thank the family for consenting.

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Material preparation, data collection and analysis were performed by UN, AJ and TK. UN, AJ, DP and FSA performed the developmental and psychological assessment and aided in interpreting the results. The first draft of the manuscript was written by TK with later review by UN, AJ and SFDP. All authors provided critical feedback and contributed to the final version of the manuscript.

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Correspondence to Teena Koshy.

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Narasimhan, U., Janakiraman, A., Puskur, D. et al. Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination. J Autism Dev Disord 53, 2138–2142 (2023). https://doi.org/10.1007/s10803-022-05458-6

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  • DOI: https://doi.org/10.1007/s10803-022-05458-6

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