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....
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Sciendo
2018-09-01
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Series: | The EuroBiotech Journal |
Subjects: | |
Online Access: | https://doi.org/10.2478/ebtj-2018-0028 |