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

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 characterist...

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Veröffentlicht in:	European journal of medical genetics 2022-04, Vol.65 (4), p.104474-104474, Article 104474
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Genotype-phenotype association Neurofibromatosis type 1 NF1 NF1 microdeletion
Online-Zugang:	Volltext
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