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...
Bewaard in:
Hoofdauteurs: | , , , , |
---|---|
Formaat: | Boek |
Gepubliceerd in: |
BMC,
2022-07-01T00:00:00Z.
|
Onderwerpen: | |
Online toegang: | Connect to this object online. |
Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|
Internet
Connect to this object online.3rd Floor Main Library
Plaatsingsnummer: |
A1234.567 |
---|---|
Kopie 1 | Beschikbaar |