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Article

A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.

American journal of medical genetics. Part A - 1 Jul 2004

Yoshida Rie, Miyata Masafumi, Nagai Toshiro, Yamazaki Toshio, Ogata Tsutomu

Abstract excerpt

A de novo 3-bp deletion (179-181delGTG) was identified at exon 3 of the PTPN11 gene in a female infant with severe Noonan phenotype including hydrops fetalis and juvenile myelomonocytic leukemia. Since the 3-bp deletion is predicted to result in loss of the 60th glycine in the N-SH2 domain that i...

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Share to Hydrops Fetalis
Share to Intracellular Signaling Peptides and Proteins
Share to Leukemia, Myeloid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Noonan Syndrome

Share to Point Mutation

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 15211660
DOI: 10.1002/ajmg.a.30029

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15211660-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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