LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene (LZTR1) have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of LZTR1 variants. We identified four loss-of-function heterozygous LZTR1 variants in five children with multipl...

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Bibliographic Details
Main Authors: Svea Horn, Teresa Neuhann, Corina Hennig, Angela Abad-Perez, Eva-Christina Prott, Lisa Cardellini, Cornelia Potratz, Jonas Leubner, Birgit Eichhorn, Martin Merkel, Angela Abicht, Angela M. Kaindl
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-08-01
Series:Frontiers in Neurology
Subjects:
LZTR1 gene
frameshift
café au lait macules
neurofibromatosis type 1
gene panel analysis
schwannomatosis
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1391425/full

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https://www.frontiersin.org/articles/10.3389/fneur.2024.1391425/full

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