LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis

LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis

Abstract Background Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomatosis, but the association, inheritance pattern and management strate...

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Bibliographic Details
Main Authors: Kirsten M. Farncombe, Emily Thain, Carolina Barnett-Tapia, Hamid Sadeghian, Raymond H. Kim
Format: Article
Language:English
Published: BMC 2022-07-01
Series:BMC Medical Genomics
Subjects:
Noonan syndrome
Neurofibromas
Whole exome sequencing
LZTR1
Online Access:https://doi.org/10.1186/s12920-022-01304-x

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