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Genetic testing for Emberger syndrome

Authors
  • Rakhmanov, Yeltay
  • Maltese, Paolo Enrico
  • Paolacci, Stefano
  • Bruson, Alice
  • Bertelli, Matteo
Type
Published Article
Journal
The EuroBiotech Journal
Publisher
Sciendo
Publication Date
Sep 01, 2018
Volume
2
Issue
s1
Pages
19–21
Identifiers
DOI: 10.2478/ebtj-2018-0028
Source
De Gruyter
Keywords
License
Green

Abstract

Emberger Syndrome (ES) is a very rare genetic disorder associated with primary lymphedema, myelodysplasia and immunodeficiency. The syndrome has autosomal dominant inheritance with incomplete penetrance. Sporadic cases caused by de novo germinal mutations in the GATA2 gene have also been described. We developed the test protocol on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in ES. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

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