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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
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Original Articles
Online adgang: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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