An atypical case of Noonan syndrome with 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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Bibliographic Details
Main Authors: Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Format: Article
Published: Korean Society of Pediatric Endocrinology 2017-09-01
Series:Annals of Pediatric Endocrinology & Metabolism
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