SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

Autor: M. Bondarenko, I. Haiboniuk, I. Solovei, Y. Shargorodska, H. Makukh

Publikováno v: Balkan Journal of Medical Genetics. 25:83-90

Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is often featured by short stature and abnormally short extremities (also known as shor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::63119199ad9161f2f03c67a6a7bd0840
https://doi.org/10.2478/bjmg-2022-0018

MUTATIONS H1069Q OF ATP7B GENE AND C282Y AND H63D OF HFE GENE IN PERSONS WITH HEPATOBILARY DISEASES OF UNDEFINED GENESIS

Autor: L L Jadzhyn, M M Tyrkus, I I Haiboniuk, H H Makukh, B B Tretiak

Publikováno v: Вісник проблем біології і медицини, Vol 2, Iss 1, Pp 224-229 (2019)

Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants ATP7B gene. Genetic testing of ATP7B gene is not usually used for Wilsons disease (WD) diagnostics in Ukraine and due to the mark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4e8bbfc4657678cb6c849c5af54bc6
https://doi.org/10.29254/2077-4214-2019-1-2-149-224-229

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SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.

Autor: Bondarenko M; Ivano-Frankivsk National Medical University, Ivano-Frankivsk, Ukraine., Haiboniuk I; Institute of Hereditary Pathology of the Ukrainian National Academy of Medical Sciences, Lviv, Ukraine.; Scientific Medical Genetic Center LeoGENE, LTD, Lviv, Ukraine., Solovei I; D. Halytskii L'viv National Medical University, Lviv, Ukraine., Shargorodska Y; Institute of Hereditary Pathology of the Ukrainian National Academy of Medical Sciences, Lviv, Ukraine., Makukh H; Institute of Hereditary Pathology of the Ukrainian National Academy of Medical Sciences, Lviv, Ukraine.; Scientific Medical Genetic Center LeoGENE, LTD, Lviv, Ukraine.

Publikováno v: Balkan journal of medical genetics : BJMG [Balkan J Med Genet] 2023 May 02; Vol. 25 (2), pp. 83-90. Date of Electronic Publication: 2023 May 02 (Print Publication: 2023).