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| An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing | |
| Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin | |
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Ann Pediatr Endocrinol Metab. 2017;22(3):203-207. Published online September 28, 2017 DOI: https://doi.org/10.6065/apem.2017.22.3.203 |
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An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing Annals of Pediatric Endocrinology & Metabolism. 2017;22(3):203-207  Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing Clinical Case Reports. 2015;3(4):237-239 Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing Clinical Case Reports. 2018;6(8):1531-1534 Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted Exome Sequencing Identified a Novel USH2A Mutation in a Chinese Usher Syndrome Family . 2020; VP16.19: Prenatal diagnosis of a case of Noonan syndrome with RAF1 gene mutation using clinical‐exome sequencing Ultrasound in Obstetrics & Gynecology. 2021;58(S1):168-168 |
