Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
ML Dentici, M Niceta, FR Lepri, C Mancini… - European Journal of …, 2024 - nature.com
Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a
transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated …
transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated …
ERF-related craniosynostosis and surgical management in the paediatric cohort
FT Afshari, P Gallo, A Shafi, J Grant, A Drew… - Child's Nervous …, 2023 - Springer
Introduction ERF mutation is one of the most recently identified genetic aberrations
associated with syndromic craniosynostosis. Data on the pattern of craniosynostosis …
associated with syndromic craniosynostosis. Data on the pattern of craniosynostosis …
[图书][B] Genetic studies of craniosynostosis with focus on syndromic forms
A Topa - 2022 - gupea.ub.gu.se
Craniosynostosis (CS) represents the premature closure of skull sutures and affects~ 1 in
2500 children. Untreated CS can lead to significant complications in craniofacial and …
2500 children. Untreated CS can lead to significant complications in craniofacial and …
[PDF][PDF] Alteraciones genéticas en la craneosinostosis no sindrómica y su relación con la cognición: una revisión.
JAM JIMÉNEZ - 2023 - ru.dgb.unam.mx
La craneosinostosis es una anomalía craneofacial resultado de la fusión prematura de una
o más suturas craneales, pudiendo clasificarse en sindrómica o no sindrómica (acorde a …
o más suturas craneales, pudiendo clasificarse en sindrómica o no sindrómica (acorde a …