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Article

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Clinical genetics - 1 Mar 2006

Stevenson D A, Viskochil D H, Rope A F, Carey J C

Abstract excerpt

Neurofibromatosis-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndrome, which are separate syndromes. Potential etiologies of NFNS include a discrete syndrome of distinct etiology, co-segregation of two mutated common genes, variable clinical expressivity of NF1, and/or allelic heterogeneity. We present an informative...

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Identifiers

PMID: 16542390
DOI: 10.1111/j.1399-0004.2006.00576.x
PMCID: PMC3243644

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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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