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Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

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Data Availability

The datasets used and/or analyzed in the current study are available from the corresponding author on request.

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Authors and Affiliations

  1. Federal State Budgetary Institution “Research Centre for Medical Genetics”, Moskvorechie str., 1, Moscow, Russia, 115522

    Tatiana Beskorovainaya, Nina Demina, Olga Shchagina, Maria Pashchenko, Oxana Ryzhkova & Alexander Polyakov

  2. Independent Clinical Bioinformatics Laboratory, Moscow, Russia

    Fedor Konovalov

  3. Genomed Ltd., Moscow, Russia

    Ilya Kanivets & Denis Pyankov

Authors
  1. Tatiana Beskorovainaya
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  2. Fedor Konovalov
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  3. Nina Demina
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  4. Olga Shchagina
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  5. Maria Pashchenko
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  6. Ilya Kanivets
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  7. Denis Pyankov
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  8. Oxana Ryzhkova
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  9. Alexander Polyakov
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Contributions

BTS—Federal State Budgetary Institution “Research Centre for Medical Genetics”, Moscow, Russia. KFA—Independent Clinical Bioinformatics Laboratory, Moscow, Russia. DNA—Federal State Budgetary Institution “Research Centre for Medical Genetics”, Moscow, Russia. SOA—Federal State Budgetary Institution “Research Centre for Medical Genetics”, Moscow, Russia. PMS—Federal State Budgetary Institution “Research Centre for Medical Genetics”, Moscow, Russia. KIV—Genomed Ltd., Moscow, Russia. PDV—Genomed Ltd., Moscow, Russia. ROP—Federal State Budgetary Institution “Research Centre for Medical Genetics”, Moscow, Russia. PAV—Federal State Budgetary Institution “Research Centre for Medical Genetics”, Moscow, Russia.

Corresponding author

Correspondence to Tatiana Beskorovainaya.

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Conflict of interest

The authors declare no conflict of interest.

Ethical Approval

The study was approved by the local ethics committee of the Federal State Budgetary Institution “Research Centre for Medical Genetics” (the Approval Number 2019–5/1).

Informed Consent

Written and informed consent for publication was obtained from patient’s parents.

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Beskorovainaya, T., Konovalov, F., Demina, N. et al. Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome. J Autism Dev Disord 51, 2159–2163 (2021). https://doi.org/10.1007/s10803-020-04668-0

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  • DOI: https://doi.org/10.1007/s10803-020-04668-0

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