Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mohamed Hesham Mashali"'
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 4, Iss 2, Pp 122-125 (2021)
Background: ATP6V1B2 gene mutation is associated with Zimmermann-Laband syndrome 2 (ZLS2), which is a rare developmental disorder characterized by nail hypoplasia and hereditary deafness. Case Presentation: We report a new phenotypic mutation of ATP6
Externí odkaz:
https://doaj.org/article/b47b3da300274a50a5b1bcecdaab648c
Publikováno v:
Journal of the Saudi Heart Association
Background Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation and dysfunction. The association with significant mitral regurgitation worsens the prognosis. Case report A 2-year-old girl presented with DCM and severe mitral reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84c25a1395573e2886d7760ae817e26a
https://doi.org/10.37616/2212-5043.1017
https://doi.org/10.37616/2212-5043.1017