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Congenital thrombocytopenia

Known as: Congenital and hereditary thrombocytopenia, Thrombocytopenia, congenital 
Thrombocytopenia with congenital onset. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

11 relations
Autoimmune thrombocytopeniaEvans syndromeImmune thrombocytopenic purpuraKasabach-Merritt syndrome

Narrower (1)

Megakaryocytic hypoplasia

Broader (2)

ThrombocytopeniaThrombocytopenic purpura

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing
We describe in this report a case of a 6-years-old female who presented at the age of 1 month with a mucocutaneous bleeding and… 
2008
2008
PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications.
Megakaryocytes and platelets express the Gs-coupled VPAC1 receptor, for which the pituitary adenylyl cyclase-activating peptide… 
2004
2004
Fanconi anemia in a neonate with pancytopenia.
2004
2004
IgA nephropathy associated with X-linked thrombocytopenia.
X-Linked thrombocytopenia (XLT) is characterized by congenital thrombocytopenia with small platelets and absence of… 
2002
2002
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia
Summary.  Fourteen children with congenital thrombocytopenia were analysed in order to unravel the mechanisms underlying their… 
1998
1998
Recombinant Interleukin‐6 in the Treatment of Congenital Thrombocytopenia Associated With Absent Radii
Purpose: The role of interleukin-6 (IL-6) in the treatment of congenital thrombocytopenias is unknown. The purpose of this case… 
Review
1996
Review
1996
Efficient diagnosis of thrombocytopenia.
Thrombocytopenia may be a benign, incidental finding in an asymptomatic patient or the sign of a potentially life-threatening… 
1984
1984
MATERNAL ISOIMMUNISATION RESULTING IN COMBINED IMMUNODEFICIENCY AND FATAL GRAFT-VERSUS-HOST DISEASE IN AN INFANT
1972
1972
Hereditary thrombocytopenia: Relation to Wiskott-Aldrich syndrome with special reference to splenectomy
1951
1951
Congenital and Neonatal Thrombocytopenic Purpura
a deficiency of 
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