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Article

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

1 Feb 1996

Abstract excerpt

Since January 1989 we have ascertained patients with neurofibromatosis type 1 (NF1) as part of our genetic register in the North West of England. This register has now identified 453 affected cases from 235 families. The first 94 individuals were specifically examined for features of the Noonan phenotype. This was present in 12/94 sequentially identified individuals with NF1 including six individuals from three...

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PMID: 8740913
DOI: 10.1111/j.1399-0004.1996.tb04328.x

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Source receipt: pubmed, retrieved 7 Sept 2026.

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