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 […]
Molecular investigations, CGH-Array, Molecular karyotype, Postnatal diagnosis, Laboratory, Publication, Smith-Magenis syndrome (SMS)