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Article

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

American journal of human genetics - 1 Sept 2004

Tartaglia Marco, Cordeddu Viviana, Chang Hong, Shaw Adam, Kalidas Kamini, Crosby Andrew, Patton Michael A, Sorcini Mariella, van der Burgt Ineke, Jeffery Steve, Gelb Bruce D

Abstract excerpt

Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects. Like many autosomal dominant disorders, a significant percentage of NS cases appear to arise from de novo mutations. Here,...

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Source

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Identifiers

PMID: 15248152
DOI: 10.1086/423493
PMCID: PMC1182027

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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Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.PMID 15248152Read ↗

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