Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 1 approved, 2 approved with reservations]

Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 1 approved, 2 approved with reservations]

Background Heterozygous de novo variants in the gene SAMD9 cause the complex multisystem disorder, MIRAGE syndrome. Patients are characterised by myelodysplasia, infections, growth restriction, adrenal insufficiency, gonadal dysfunction and enteropathies. Pathogenic variants in SAMD9 are gain-of-fun...

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Bibliographic Details
Main Authors: Federica Buonocore, Monika Balys, Glenn Anderson, John C. Achermann
Format: Article
Language:English
Published: F1000 Research Ltd 2024-02-01
Series:F1000Research
Subjects:
SAMD9
endosomes
MIRAGE syndrome
transmission electron microscopy.
eng
Online Access:https://f1000research.com/articles/12-155/v2

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