Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation

Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation

Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described...

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Bibliographic Details
Main Authors: I. V. Sharkova, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2018-04-01
Series:Nervno-Myšečnye Bolezni
Subjects:
lamb–shaffer syndrome
exome sequencing
sox5 gene
monogenic syndromes
retardation of motor and speech development
intellectual deficiency
Online Access:https://nmb.abvpress.ru/jour/article/view/261

Internet

https://nmb.abvpress.ru/jour/article/view/261

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