New publication of Microgenomics Staff!

30 Oct , 2014 News from Microgenomics

New publication of Microgenomics Staff!

We invite you to read an interesting paper recently published on the journal American Journal of Medical Genetics: “Periventricular nodular heterotopia in Smith-Magenis syndrome“.

Microgenomics Staff contributed to the draft of this publication.

ABSTRACT:

Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations. The syndrome is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioural and neurocognitive abnormalities, as well as variable multisystemic manifestations.…. Read more on PubMed!

For any further information on this topic or if you can not view the full article , please write us at info@microgenomics.it

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