Work

A de novo T73I Mutation in PTPN11 in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome

Year: 2013

Type: article

Study design: Case Report

Source: Neonatology

DOI: 10.1159/000346375

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

Institutions: Intermountain Healthcare, University of Utah, Harvard University, Manton Center for Orphan Disease Research

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: ARUP Laboratories, Manton Center for Orphan Disease Research, Boston Children's Hospital, National Heart, Lung, and Blood Institute

Award: Prolonged and Severe Thrombocytopenia in Neonates

OpenAlex ID: W2093550344

FWCI: 1.183

Cites: 13

Cited by: 18

Related to: 10