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Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome”

Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants of chromosomal imbalance depend on the mechanism of re...

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Detalles Bibliográficos
Autores principales: Yurchenko, Darya A., Minzhenkova, Marina E., Dadali, Elena L., Markova, Zhanna G., Rudenskaya, Galina E., Matyushchenko, Galina N., Kanivets, Ilya V., Shilova, Nadezda V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945196/
https://www.ncbi.nlm.nih.gov/pubmed/35327368
http://dx.doi.org/10.3390/biomedicines10030567