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Article

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

American journal of medical genetics. Part A - 1 Sept 2012

Pasmant Eric, Amiel Jeanne, Rodriguez Diana, Vidaud Michel, Vidaud Dominique, Parfait Béatrice

Abstract excerpt

Here we report on a family with two siblings born to unrelated healthy parents, one with neurofibromatosis type 1 (NF1) and the other with Noonan syndrome (NS). Molecular investigations performed on the NF1 and PTPN11 genes showed two independent de novo mutations as a cause for NF1 in the NF1 proband and NS in her affected brother. Both de novo mutations were potentially of paternal origin, given the advanced...

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Source

Identifiers

PMID: 22847776
DOI: 10.1002/ajmg.a.35496

Genes

PTPN11

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.

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