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Clinical Features of Kousseff Syndrome Associated with 22q11.2 Microdeletion

Specialty:

Genetics

Objective:

ICD-10:

Description:

Kousseff described siblings in a family with a group of malformations. Subsequently the phenotype was associated with microdeletions in 22q11-13, placing it within the spectrum of the Velo-Cardio-Facial (VCF) syndromes.

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