Genetic testing for Hennekam syndrome

The EuroBiotech Journal

Beccari Tommaso¹  Bertelli Matteo²  Maltese Paolo Enrico²  Rakhmanov Yeltay²  Bruson Alice² 

[1] Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy;MAGI’s Lab, Rovereto, Italy;

关键词: primary lymphatic malformations;    hennekam syndrome;    ebtna utility gene test;   

DOI  :  10.2478/ebtj-2018-0027

来源: DOAJ

【 摘 要 】

Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in HS. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

【 授权许可】

Unknown