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

J Autism Dev Disord. 2021 Jun;51(6):2159-2163. doi: 10.1007/s10803-020-04668-0.

Authors

Tatiana Beskorovainaya¹, Fedor Konovalov², Nina Demina³, Olga Shchagina³, Maria Pashchenko³, Ilya Kanivets⁴, Denis Pyankov⁴, Oxana Ryzhkova³, Alexander Polyakov³

Affiliations

¹ Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522. t-kovalevskaya@yandex.ru.
² Independent Clinical Bioinformatics Laboratory, Moscow, Russia.
³ Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522.
⁴ Genomed Ltd., Moscow, Russia.

PMID: 32816169
DOI: 10.1007/s10803-020-04668-0

No abstract available

Publication types

Letter