| Autor: |
Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Beccari Tommaso, Bertelli Matteo |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
The EuroBiotech Journal, Vol 2, Iss s1, Pp 16-18 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2564-615X |
| DOI: |
10.2478/ebtj-2018-0027 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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