The LEOPARD syndrome. Тhe case of a rare hereditary disease in the practice of physician-geneticist
https://doi.org/10.1234/XXXX-XXXX-2016-8-40-42
Abstract
There was considered the case of a rare hereditary disease of LEOPARD syndrome among representatives of four generations of the family. The diagnosis was exhibited on a set of clinical and phenotypic characteristics, confirmed by molecular genetic methods.
About the Authors
L. A. Khlevnaya
Repablican Specialized Center of Medical Genetics and prenatal diagnosis
Russian Federation
Russian Federation
T. V. Lisenko
Repablican Specialized Center of Medical Genetics and prenatal diagnosis
Russian Federation
Russian Federation
N. V. Mazurik
Repablican Specialized Center of Medical Genetics and prenatal diagnosis
Russian Federation
Russian Federation
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Review
For citations:
Khlevnaya L.A., Lisenko T.V., Mazurik N.V. The LEOPARD syndrome. Тhe case of a rare hereditary disease in the practice of physician-geneticist. Medical Genetics. 2016;15(8):40-42. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-8-40-42
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