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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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Online Erişim: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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