An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing

Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the...

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Detalles Bibliográficos
Autores principales: Kim, Jinsup, Cho, Sung Yoon, Yang, Aram, Jang, Ja-Hyun, Choi, Youngbin, Lee, Ji-Eun, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642084/
https://www.ncbi.nlm.nih.gov/pubmed/29025208
http://dx.doi.org/10.6065/apem.2017.22.3.203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642084/
https://www.ncbi.nlm.nih.gov/pubmed/29025208
http://dx.doi.org/10.6065/apem.2017.22.3.203

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