Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study

Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study

<b>Background:</b> Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the <i>NF1</i> gene. Although genotype–phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. <b>...

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Main Authors: Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:Biomedicines
Subjects:
rare diseases
genotype–phenotype analyses
NGS
type 1 neurofibromatosis
splice-site mutations
<i>NF1</i> gene
Online Access:https://www.mdpi.com/2227-9059/13/1/146
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