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Article

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.

American journal of medical genetics. Part A - 1 Nov 2010

Derbent Murat, Öncel Yekta, Tokel Kürşad, Varan Birgül, Haberal Ayşegül, Yazici A Canan, Legius Eric, Özbek Namik

Abstract excerpt

Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rates of coagulopathy. The aim of this study was to evaluate phenotypic characteristics, PTPN11 gene mutations, and hematological...

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Source

Identifiers

PMID: 20954246
DOI: 10.1002/ajmg.a.33713

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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