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Article

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.

Journal of medical genetics - 1 Apr 2015

Sant David W, Margraf Rebecca L, Stevenson David A, Grossmann Allie H, Viskochil David H, Hanson Heather, Everitt Melanie D, Rios Jonathan J, Elefteriou Florent, Hennessey Theresa, Mao Rong

Abstract excerpt

BACKGROUND: Tibial pseudarthrosis is associated with neurofibromatosis type 1 (NF1) and there is wide clinical variability of the tibial dysplasia in NF1, suggesting the possibility of genetic modifiers. Double inactivation of NF1 is postulated to be necessary for the development of tibial pseuda...

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Source

Identifiers

PMID: 25612910
DOI: 10.1136/jmedgenet-2014-102815

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25612910-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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