Xq12q13.2 duplication detected in a child in selective exome screening

Xq12q13.2 duplication detected in a child in selective exome screening

Background. Within the framework of the regional pilot project on selective exome screening of newborn children, which is carried out on the basis of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, we conducted molecular genetic...

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Bibliographic Details
Main Authors: A. A. Dokshukina, Je. Shubina, D. N. Maslennikov, I. O. Sadelov, E. R. Tolmacheva, S. V. Ionushene, T. A. Bairova, L. V. Rychkova, D. Yu. Trofimov, D. N. Degtyarev
Format: Article
Language:Russian
Published: Scientific Сentre for Family Health and Human Reproduction Problems 2024-09-01
Series:Acta Biomedica Scientifica
Subjects:
newborn screening
selective screening
whole exome sequencing
chromosomal microarray analysis
phenotype assessment
genetic diseases
Online Access:https://www.actabiomedica.ru/jour/article/view/4946
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