| Item type |
itemtype_ver1(1) |
| 公開日 |
2022-11-22 |
| タイトル |
|
|
タイトル |
PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax |
|
言語 |
en |
| 著者 |
Watanabe, Daisuke
Hasebe, Yohei
Kasai, Shin
Shinohara, Tamao
Maebayashi, Yuki
Katsumata, Nobuyuki
Nemoto, Atsushi
Naitoh, Atsushi
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利 |
|
|
言語 |
en |
|
権利情報Resource |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
|
権利情報 |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
Noonan syndrome |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
chylothorax |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
genotype-phenotype |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
PTPN11 |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
c.853T>C (p.Phe285Leu) |
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Recent advances in molecular and genetic approaches have identified a number of genes responsible for Noonan syndrome (NS). However, there has been limited analysis of the genotype-phenotype correlation of NS patients. Here, we report the case of a Japanese patient with NS possessing a c.853T>C (p.Phe285Leu) mutation in the gene encoding protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11). To clarify genotype-phenotype correlations, the accumulation of data on the clinical course of patients with genetically confirmed NS is important. We summarized the cases with mutations at PTPN11 position 285 and found that c854T>C (p.Phe285Ser) is the most common mutation at this position. In these reports, although little is mentioned about the genotype-phenotype correlation, two patients with NS possessing the PTPN11 c854T>C (p.Phe285Ser) mutation accompanied by chylothorax are described. There is still a lack of detailed information about the phenotype associated with the c.853T>C (p.Phe285Leu) mutation observed in this case. More research is needed to better understand these cases. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Nagoya University Graduate School of Medicine, School of Medicine |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| ID登録 |
|
|
ID登録 |
10.18999/nagjms.84.4.871 |
|
ID登録タイプ |
JaLC |
| 関連情報 |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
URI |
|
|
関連識別子 |
https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/844.html |
| 収録物識別子 |
|
|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0027-7622 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2186-3326 |
| 書誌情報 |
en : Nagoya Journal of Medical Science
巻 84,
号 4,
p. 871-876,
発行日 2022-11
|
18_Watanabe.pdf (6.5 MB)
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