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Article

Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years.

European journal of medical genetics - 1 Apr 2022

Ho Stephanie Kl, Luk Ho-Ming, Ng Samuel Yl, Yu Kris Pt, Cheng Shirley Sw, Ng Phoebe Py, Mok Myth Ts, Hau Edgar Wl, Lo Ivan Fm

Abstract excerpt

Neurofibromatosis type 1 (NF1; OMIM #162200) is the commonest multi-systemic neurocutaneous tumour-predisposition disorder. It has an age-related complete penetrance but a highly variable inter- and intra-familial expressivity. This article summarizes the clinical features and molecular characteristics of 832 clinically or molecularly confirmed NF1 patients from 697 unrelated families recruited from a single...

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PMID: 35240321
DOI: 10.1016/j.ejmg.2022.104474

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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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