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...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2019
Sujets:
Original Articles
Accès en ligne: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
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