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Article

A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.

Neonatology - 1 Jan 2013

Christensen Robert D, Yaish Hassan M, Leon Eyby L, Sola-Visner Martha C, Agrawal Pankaj B

Abstract excerpt

We observed a neonate with severe congenital thrombocytopenia and features of Noonan syndrome where evaluations were negative for immune-mediated thrombocytopenia, congenital infections, and Fanconi anemia. The marrow findings and a significantly elevated plasma thrombopoietin (Tpo) level were consistent with congenital amegakaryocytic thrombocytopenia; we sought a genetic mutation that could explain this...

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Share to Thrombopoietin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Share to Thrombocytopenia

Source

Identifiers

PMID: 23446178
DOI: 10.1159/000346375

Genes

PTPN11
MPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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