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Smith-Magenis (RAI1)/Miller-Dieker Probe Combination LPU 019
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly syndrome characterised by mental retardation, neuro-behavorial abnormalities, sleep disturbances, short stature, minor craniofacial and skeletal anomalies, congenital heart defects and renal anomalies.
It is one of the most frequently observed human microdeletion syndromes and is associated with an interstitial deletion of the chromosome band 17p11.21.
Smith Magenis (RAI1)/Miller-Dieker Probe Combination
Cat. No. LPU 019-S (5 tests)
Cat. No. LPU 019 (10 tests)
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