Author(s): Yüksel, Zafer, MD, Rolfs, Prof. Arndt, MD, Bertoli-Avella, Aida M., MD, Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, Werber, Martin, Al Hashem, Amal, Vogel, Florian, Kampe, Kapil, Beetz, Christian, Tabarki, Brahim, Alanzi, TSA
Based on the ambition to provide maximum diagnostic yield, CENTOGENE offers follow up of negative WES/WGS reports in a research setting. Recently, this approach resulted in the association of a special form of congenital hydrocephalus with bi-allelic inactivation of the DLG5 gene. The finding, which represents the definition of a novel rare disorder, was published in Clinical Genetics ahead of print on February 21st.
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