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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 (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.
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