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

• Main Authors: Jinsup Kim (Author), Sung Yoon Cho (Author), Aram Yang (Author), Ja-Hyun Jang (Author), Youngbin Choi (Author), Ji-Eun Lee (Author), Dong-Kyu Jin (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...