| Autor: |
Hiroyuki Kawaguchi, Yumi Ogura, Kenji Uematsu, Katsuyoshi Koh, Hiroshi Yoshino, Chihaya Imai, Ryo Inuzuka, Masayuki Nagasawa, Shigeaki Nonoyama, Shinji Kunishima |
| Rok vydání: |
2023 |
| DOI: |
10.22541/au.168052509.91411810/v1 |
| Popis: |
A targeted sequencing technique was applied to detect cases of suspected congenital thrombocytopenia as a case series study. Six of 18 patients tested had positive results from the existing catalogue, while a definitive diagnosis was not determined for the remaining 12. Two neonates revealed defects in PTPN11, indicating Noonan syndrome. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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