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Article

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.

Indian pediatrics - 15 Aug 2017

Narayanan Dhanya Lakshmi, Pandey Himani, Moirangthem Amita, Mandal Kausik, Gupta Rekha, Puri Ratna Dua, Patil S J, Phadke Shubha R

Abstract excerpt

OBJECTIVE: To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS: 17 individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS: Mutation in PTPN11 was detected in 11 out of 17 (64.7%) patients with Noonan syndrome; 72% had mutation in exon 3...

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Source

Identifiers

PMID: 28607217
DOI: 10.1007/s13312-017-1125-z

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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