Noonan Syndrome in Thai Children

Nonglak Boonchooduang; Orawan Louthrenoo; Pranoot Tanpaiboon

Noonan Syndrome in Thai Children

Indian Pediatr. 2020 Oct 15;57(10):967-968.

Authors

Nonglak Boonchooduang¹, Orawan Louthrenoo², Pranoot Tanpaiboon³

Affiliations

¹ Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand. [email protected].
² Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
³ Division of Genetics and Metabolism, Children National Health System, Washington, District of Columbia, USA.

PMID: 33089815

Abstract

This study describes clinical features of Noonan syndrome and gene mutations, including PTPN11, SOS1, and BRAF in the Thai population.Widely spaced eyes were the most common finding from the digital facial analysis technology used in this study.

MeSH terms

Child
Humans
Mutation
Noonan Syndrome* / diagnosis
Noonan Syndrome* / epidemiology
Noonan Syndrome* / genetics
SOS1 Protein / genetics
Thailand

Substances

SOS1 Protein