Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

Journal of applied genetics - 1 May 2024

Ouboukss Fatima, Adadi Najlae, Amasdl Saadia, Smaili Wiam, Laarabi Fatima Zahra, Lyahyai Jaber, Sefiani Abdelaziz, Ratbi Ilham

Abstract excerpt

Noonan syndrome (NS; OMIM 163950) is an autosomal dominant RASopathy with variable clinical expression and genetic heterogeneity. Clinical manifestations include characteristic facial features, short stature, and cardiac anomalies. Variants in protein-tyrosine phosphatase, non-receptor-type 11 (PTPN11), encoding SHP-2, account for about half of NS patients, SOS1 in approximately 13%, RAF1 in 10%, and RIT1 each in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Macroglobulins
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to ras GTPase-Activating Proteins

Share to Repressor Proteins

Share to Transcription Factors

Source

Identifiers

PMID: 37987971
DOI: 10.1007/s13353-023-00803-6

Genes

PTPN11
A2ML1
BRAF
CBL
CDC42
KRAS
LZTR1
MAP2K1
MRAS
NRAS
PPP1CB
RAF1
RASA2
RIT1
SOS1
SOS2
SPRED2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.PMID 37987971Read ↗

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

Noonan Syndrome in South Africa: Clinical and Molecular ProfilesSemantic proximity Read ↗

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.Semantic proximity Read ↗

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.Semantic proximity Read ↗

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.Semantic proximity Read ↗

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.Semantic proximity Read ↗

Molecular and Clinical Profile of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patientsSemantic proximity Read ↗

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.Semantic proximity Read ↗

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.Semantic proximity Read ↗

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.Semantic proximity Read ↗

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.Semantic proximity Read ↗

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.