Description of a clinical case of syndrome of mental retardation, X-linked 102, caused by a mutation in the gene DDX3X
Abstract
We present clinical and genetic characteristics of the girl with syndrome of mental retardation, X-linked 102 caused by a mutation in gene DDX3X identified in exome sequencing. We cited the clinical characteristics of syndrome of X-linked mental retardation type 102 described in the literature.
About the Authors
G. N. Matyushchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. V. Anisimova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
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Review
For citations:
Matyushchenko G.N., Anisimova I.V. Description of a clinical case of syndrome of mental retardation, X-linked 102, caused by a mutation in the gene DDX3X. Medical Genetics. 2017;16(8):46-48. (In Russ.)
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