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Article

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

Journal of human genetics - 1 Jan 2020

Kang Eungu, Kim Yoon-Myung, Seo Go Hun, Oh Arum, Yoon Hee Mang, Ra Young-Shin, Kim Eun Key, Kim Heyry, Heo Sun-Hee, Kim Gu-Hwan, Osborn Mark J, Tolar Jakub, Yoo Han-Wook, Lee Beom Hee

Abstract excerpt

Neurofibromatosis type 1 (NF1) is caused by heterozygous mutation in the NF1 gene. NF1 is one of the most common human genetic diseases. However, the overall genotype-phenotype correlation has not been known, due to a wide spectrum of genotypic and phenotypic heterogeneity. Here we describe the detailed clinical and genetic features of 427 Korean NF1 patients from 389 unrelated families. Long range PCR and...

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Identifiers

PMID: 31776437
DOI: 10.1038/s10038-019-0695-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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