Work

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

Year: 2012

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2012.07.007

Authors: Sybille Lorenz, Christine Petersen, Ulrike Kordaß, Heide Seidel, Martin Zenker, Kerstin Kutsche

Institutions: University Medical Center Hamburg-Eppendorf, Universitätsmedizin Greifswald, TUM Klinikum, Institut für Humangenetik, Technical University of Munich, University Hospital Magdeburg

Language: English

Topic: Protein Tyrosine Phosphatases

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2048003247

FWCI: 0.512

Cites: 18

Cited by: 33

Related to: 10