Work

Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing

Year: 2015

Type: article

Abstract: Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.205

Authors: Alexandra Coromilas, Julia Wynn, Eden Haverfield, Wendy K. Chung

Institution: Columbia University Irving Medical Center

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: gold

Estimated APC paid: $1,820