Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Abstract excerpt

N This is the largest series of patients to have been molecularly characterised and includes the r( The minimum critical region responsible for the monosomy 22q13 phenotype includes the genes PROSAP2/SHANK3, ACR, and RABL2B, but not ARSA.

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