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A case of Allan-Herndon-Dudley syndrome

Abstract

Clinical case of patients from the same family with a rare genetic disease - Allan-Herndon-Dudley syndrome - is presented. Family history, similar clinical symptoms, genetic analysis are important for the diagnosis of this genetic syndrome.

About the Authors

N. Yu. Vasilkova
Clinical Center for Family Health and Reproduction
Russian Federation


T. V. Lukyanova
Clinical Center for Family Health and Reproduction
Russian Federation


M. M. Kobets
Clinical Center for Family Health and Reproduction
Russian Federation


I. F. Komarkov
Clinical Center for Family Health and Reproduction
Russian Federation


A. G. Ryzhikh
Clinical Center for Family Health and Reproduction
Russian Federation


V. Yu. Udalova
Genomed LLC
Russian Federation


S. V. Sosnitskaya
Clinical Center for Family Health and Reproduction
Russian Federation


Review

For citations:


Vasilkova N.Yu., Lukyanova T.V., Kobets M.M., Komarkov I.F., Ryzhikh A.G., Udalova V.Yu., Sosnitskaya S.V. A case of Allan-Herndon-Dudley syndrome. Medical Genetics. 2020;19(8):72-73. (In Russ.)

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This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2073-7998 (Print)