CareLit · DOI-Nachweis · Zeitschrift für Orthopädie und Unfallchirurgie
MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder
DOI 10.1055/s-0038-1645840
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Nachweis in CareLit
Autor:innenZaninetti, C.; De Rocco, D.; Giangregorio, T.; Bozzi, V.; Demeter, J.; Leoni, P.; Noris, P.; Ryhänen, S.; Barozzi, S.; Savoia, A.; Pecci, A.
ZeitschriftZeitschrift für Orthopädie und Unfallchirurgie
Ausgabe01/2019
Jahrgang / SeitenJg. 39 · S. 087 bis 094
Kernaussage aus der Literatur
Abstract-Vorschau
Abstract MYH9-related disease (MYH9-RD) is an autosomal-dominant thrombocytopenia caused by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney damage, sensorineural deafness, presenile cataracts and/or liver enzymes abnormalities. The spectrum of mutations f…
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Zitierempfehlung
Zaninetti, C.; De Rocco, D.; Giangregorio, T.; Bozzi, V.; Demeter, J.; Leoni, P.; Noris, P.; Ryhänen, S.; Barozzi, S.; Savoia, A.; Pecci, A (2019) MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder. Zeitschrift für Orthopädie und Unfallchirurgie, 39 (01), 087 bis 094. https://doi.org/10.1055/s-0038-1645840
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