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Chromosome 6, deletion 6q13 q15

MedGen UID:
419850
•Concept ID:
C2931605
•
Cell or Molecular Dysfunction
Synonyms: Deletion 6q13 q15; Monosomy 6q13 q15

Recent clinical studies

Etiology

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
Engwerda A, Frentz B, den Ouden AL, Flapper BCT, Swertz MA, Gerkes EH, Plantinga M, Dijkhuizen T, van Ravenswaaij-Arts CMA
Eur J Hum Genet 2018 Oct;26(10):1478-1489. Epub 2018 Jun 8 doi: 10.1038/s41431-018-0172-9. PMID: 29904178Free PMC Article

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