Výsledky vyhledávání - "S. E. Ryabova"

Barakat syndrome: clinical polymorphism of the disease

Autor: N. M. Zaikova, S. L. Morozov, S. E. Ryabova, V. V. Dlin

Publikováno v: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 68:86-92

Barakat Syndrome (MIM#146255) is a rare autosomal dominant disease caused by GATA3 gene mutation and manifested by hypoparathyroidism (H), sensorineural deafness (D), and renal disease (R). HDR syndrome characterized by high clinical variability and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2da316f441c774cec6b6d171688c73ce
https://doi.org/10.21508/1027-4065-2023-68-2-86-92

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Rare variant of heterotaxy syndrome in childhood in pulmonology clinic

Autor: Yu. L. Mizernitskiy, A. A. Novak, I. E. Zorina, S. E. Ryabova, I. A. Kovalev, E. G. Verchenko, V. S. Bereznitskiy, L. P. Melikyan, L. V. Egorov

Publikováno v: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:88-92

Heterotaxy syndrome is a congenital malformation in which the internal organs of the chest and abdominal cavity have an abnormal location. People suffering from this syndrome have multiple complex defects in the heart, blood vessels, spleen, liver, l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17a7ab4d5aeb47d00fcbf25d25939573
https://doi.org/10.21508/1027-4065-2022-67-6-88-92

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