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malformative associations

Exemples

- CHARGE association
- MURCS association (MIM.601076)
- VATER association (VACTERL association)

CGH

- 16.3% of genomic rearrangements (#15689449#)

References

- Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet. 2005 Feb;42(2):121-8. PMID: #15689449#