Genetic testing for Emberger syndrome

Genetic testing for Emberger syndrome

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....

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Bibliographic Details
Main Authors: Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Bruson Alice, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2018-09-01
Series:The EuroBiotech Journal
Subjects:
primary lymphatic malformations
emberger syndrome
gata2 gene
ebtna lab utility gene test
Online Access:https://doi.org/10.2478/ebtj-2018-0028

Internet

https://doi.org/10.2478/ebtj-2018-0028

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