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Article

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

American journal of medical genetics. Part A - 1 Oct 2013

Gripp Karen W, Zand Dina J, Demmer Laurie, Anderson Carol E, Dobyns William B, Zackai Elaine H, Denenberg Elizabeth, Jenny Kim, Stabley Deborah L, Sol-Church Katia

Abstract excerpt

Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal abnormalities, and learning differences. The phenotyp...

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Source

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Identifiers

PMID: 23918763
DOI: 10.1002/ajmg.a.36098
PMCID: PMC3787995

Genes

JAK2
PTPN11
RAF1
SOS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23918763-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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