New publication!

6 Oct , 2015 News from Microgenomics

New publication!

We invite you to read an interesting paper recently published on the European Journal of Human Genetics: “9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping“.

ABSTRACT:

The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes… 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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