The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

BACKGROUND: Noonan syndrome (NS) is an autosomal dominant disorder that belongs to a group of developmental disorders called RASopathies with overlapping features and multiple causative genes. The aim of the study was to identify mutations underlying this disorder in patients from Southeast Asia and...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
Schlagworte:
Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465663/
https://ncbi.nlm.nih.gov/pubmed/30784236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.581
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge