Congenital thrombocytopenia

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

Papers overview

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Review
2016
Review
2016
Thrombocytopenia is defined as a status in which platelet numbers are reduced. Imbalance between the homeostatic regulation of… (More)
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2013
2013
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha… (More)
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2007
2007
As chromosomal instability may contribute to leukemogenesis in patients with congenital bone marrow failure (CBMF) disorders, it… (More)
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2004
2004
Of the congenital disorder of glycosylation (CDG) syndromes, type 1a is the most common. CDG 1a is a multisystem disorder with a… (More)
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2004
2004
X-Linked thrombocytopenia (XLT) is characterized by congenital thrombocytopenia with small platelets and absence of… (More)
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2003
2003
OBJECTIVE We studied two adult brothers with severe congenital thrombocytopenia in order to determine the genetic etiology of… (More)
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1997
1997
The pathophysiology of thrombocytopenia in the syndrome of thrombocytopenia with absent radii (TAR) is not yet understood. We… (More)
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Highly Cited
1995
Highly Cited
1995
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema… (More)
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1995
1995
The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome… (More)
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1995
1995
This study characterizes a new congenital thrombocytopenia with mild hemorrhagic tendency occurring in a woman and her child with… (More)
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