ABSTRACT We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS)
AbstractHeterozygous mutations in GATA2 underlie different syndromes, previously described as monocy...
Accepted: 8 August 2021GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease...
Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We in...
We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emer...
Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytope...
Heterozygous familial or sporadic GATA2 mutations cause a multifaceted disorder, encompassing suscep...
Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to ...
Heterozygous germline mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedem...
GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficienc...
Abstract Background GATA2 deficiency presents with a spectrum of phenotypes including increased susc...
International audienceGATA2 mutations have been identified in various diseases, such as MonoMAC synd...
Myelodysplastic syndromes (MDS) are hematopoietic disorders rare in childhood, often occurring in pa...
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal d...
Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We in...
The importance of predisposition to leukaemia in clinical practice is being increasingly recognized....
AbstractHeterozygous mutations in GATA2 underlie different syndromes, previously described as monocy...
Accepted: 8 August 2021GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease...
Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We in...
We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emer...
Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytope...
Heterozygous familial or sporadic GATA2 mutations cause a multifaceted disorder, encompassing suscep...
Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to ...
Heterozygous germline mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedem...
GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficienc...
Abstract Background GATA2 deficiency presents with a spectrum of phenotypes including increased susc...
International audienceGATA2 mutations have been identified in various diseases, such as MonoMAC synd...
Myelodysplastic syndromes (MDS) are hematopoietic disorders rare in childhood, often occurring in pa...
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal d...
Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We in...
The importance of predisposition to leukaemia in clinical practice is being increasingly recognized....
AbstractHeterozygous mutations in GATA2 underlie different syndromes, previously described as monocy...
Accepted: 8 August 2021GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease...
Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We in...
DOI
Add to ORKG