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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Detalles Bibliográficos
Autores principales: Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465663/
https://www.ncbi.nlm.nih.gov/pubmed/30784236
http://dx.doi.org/10.1002/mgg3.581

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465663/
https://www.ncbi.nlm.nih.gov/pubmed/30784236
http://dx.doi.org/10.1002/mgg3.581

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