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Article

Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report.

BMC pediatrics - 1 May 2020

Zhang Zhen, Chen Xin, Zhou Rui, Yin Huaixiang, Xu Jiali

Abstract excerpt

BACKGROUND: Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1-58 of the NF1 gene on chromosome 17 in a 15-month-old boy. CASE PRESENTATION: A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum,...

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Identifiers

PMID: 32357851
DOI: 10.1186/s12887-020-02102-z
PMCID: PMC7193357

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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