A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies

被引:4
|
作者
Rae, Byung Gi [1 ,2 ]
Kim, Hee Jung [3 ]
Lee, Sang-Guk [4 ]
Choi, Jong Rak [4 ]
Hwang, Chul [5 ,6 ]
Lee, Jeung Hoon [5 ,6 ]
Lee, Kyung-A [4 ]
Lee, Min-Geol [1 ,2 ]
机构
[1] Yonsei Univ, Coll Med, Dept Dermatol, Seoul 120752, South Korea
[2] Yonsei Univ, Coll Med, Cutaneous Biol Res Inst, Brain Korea Project Med Sci 21, Seoul 120752, South Korea
[3] Sungkyunkwan Univ, Sch Med, Kangbuk Samsung Hosp, Dept Dermatol, Seoul, South Korea
[4] Yonsei Univ, Coll Med, Dept Lab Med, Seoul 120752, South Korea
[5] Chungnam Natl Univ, Dept Dermatol, Coll Med, Taejon, South Korea
[6] Chungnam Natl Univ, Med Res Inst, Taejon, South Korea
关键词
TUMOR-SUPPRESSOR; PROSTATE-CANCER; GENE; DIAGNOSIS;
D O I
10.2340/00015555-0994
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:88 / 90
页数:3
相关论文
共 50 条
  • [41] A novel COMP mutation in a Chinese patient with pseudoachondroplasia
    Xie, Xuemei
    Liao, Lihong
    Gao, Jinzhi
    Luo, Xiaoping
    GENE, 2013, 522 (01) : 102 - 106
  • [42] A Korean Patient with Glutaric Aciduria Type 1 with a Novel Mutation in the Glutaryl CoA Dehydrogenase Gene
    Kim, Hee Su
    Yu, Hee Joon
    Lee, Jeehun
    Park, Hyung-Doo
    Kim, Ji Hye
    Shin, Hyung-Jin
    Jin, Dong Kyu
    Lee, Munhyang
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2014, 44 (02) : 213 - 216
  • [43] Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies
    Porrmann, Joseph
    Betcheva-Krajcir, Elitza
    Di Donato, Nataliya
    Kahlert, Anne-Karin
    Schallner, Jens
    Rump, Andreas
    Schroeck, Evelin
    Dobritzsch, Doreen
    Roelofsen, Jeroen
    van Kuilenburg, Andre B. P.
    Tzschach, Andreas
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2736 - 2742
  • [44] A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome
    Sugimoto, Keisuke
    Nishi, Hitomi
    Miyazawa, Tomoki
    Fujita, Shinsuke
    Okada, Mitsuru
    Takemura, Tsukasa
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2014, 232 (03) : 163 - 166
  • [45] A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome
    Christianto, Antonius
    Katayama, Syouichi
    Karneshita, Isamu
    Inazu, Tetsuya
    CLINICA CHIMICA ACTA, 2016, 459 : 132 - 136
  • [46] A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4
    Sandrock-Lang, Kirstin
    Boeckelmann, Doris
    Eberl, Wolfgang
    Schmitt-Kaestner, Sophie
    Zieger, Barbara
    BLOOD CELLS MOLECULES AND DISEASES, 2018, 69 : 113 - 116
  • [47] CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene
    Poojary, Shital
    Shah, Kapisha S.
    Bhalala, Krishna B.
    Hegde, Anaita Udwadia
    PEDIATRIC DERMATOLOGY, 2019, 36 (03) : 372 - 376
  • [48] NOVEL GLIS3 MUTATION IN PATIENT WITH NEONATAL DIABETES MELLITUS AND CONGENITAL HYPOTHYROIDISM (NDH-SYNDROME)
    Tikhonovich, Yulia, V
    Chernich, Liudmila G.
    Velikanov, Igor N.
    Polyakova, Valentina M.
    Vasilyev, Evgeny V.
    Petrov, Vasily M.
    Shreder, Ekaterina, V
    Glavatskich, Elena, V
    Tyulpakov, Anatoliy N.
    DIABETES MELLITUS, 2022, 25 (01): : 81 - 88
  • [49] Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome
    Arnaud, Lionel
    Salachas, Francois
    Lucien, Nicole
    Maisonobe, Thierry
    Le Pennec, Pierre-Yves
    Babinet, Jerome
    Cartron, Jean-Pierre
    TRANSFUSION, 2009, 49 (03) : 479 - 484
  • [50] Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis
    Tabaro, Isabella
    Reimondo, Giuseppe
    Osella, Giangiacomo
    Aurizi, Caterina
    Caraci, Pasquale
    Barbieri, Luca
    Giachino, Daniela Francesca
    Sirchia, Fabio
    Terzolo, Massimo
    ENDOCRINE, 2018, 61 (03) : 403 - 406