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Article

The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.

Turkish journal of medical sciences - 1 Jan 2015

El Bouchikhi Ihssane, Samri Imane, Iraqui Houssaini Mohammed, Trhanint Saaid, Bouguenouch Laila, Sayel Hanane, Hida Moustapha, Atmani Samir, Ouldim Karim

Abstract excerpt

BACKGROUND/AIM: Noonan syndrome is an autosomal dominant disorder with an incidence of 1/1000-2500. It results from protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11) mutations in roughly 50% of cases. Mutational screening of PTPN11 has been carried out in different populations. Thus, the aim of this study was to screen, for the first time, PTPN11 mutations in a series of Moroccan Noonan syndrome...

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Source

Identifiers

PMID: 26084119
DOI: 10.3906/sag-1310-50

Genes

PTPN11
PTPN1

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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