Two novel mutations in the PTPN11 gene associated with Noonan and LEOPARD syndromes

被引:0
|
作者
Ylonen, S
Körkkö, J
Somer, M
Ignatius, J
机构
[1] Univ Hosp, Dept Clin Genet, Oulu, Finland
[2] Finnish Family Federat, Dept Clin Genet, Helsinki, Finland
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2425
引用
收藏
页码:581 / 581
页数:1
相关论文
共 50 条
  • [31] Case report: Noonan syndrome in a patient with two novel heterozygous substitutions of neighboring nucleotides in the PTPN11 gene
    Broussard, Julia R.
    Saunders, Carol J.
    Ugrasbul, Figen
    HORMONE RESEARCH, 2009, 72 : 313 - 313
  • [32] Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome
    Hung, Chia-Sui
    Lin, Ju-Li
    Lee, Yann-Jinn
    Lin, Shuan-Pei
    Chao, Mei-Chyn
    Lo, Fu-Sung
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2007, 106 (02) : 169 - 172
  • [33] THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME
    Toksoy, Guven
    Tepgec, Fatih
    Sarac Sivrikoz, Tugba
    Kalelioglu, Ibrahim Halil
    Demir, Selma
    Has, Recep
    Yuksel, Atil
    Uyguner, Zehra Oya
    Basaran, Seher
    JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, 2021, 84 (01): : 34 - 39
  • [34] Hotspots in PTPN11 gene among Indian children with Noonan syndrome
    Dhanya Lakshmi Narayanan
    Himani Pandey
    Amita Moirangthem
    Kausik Mandal
    Rekha Gupta
    Ratna Dua Puri
    S. J. Patil
    Shubha R. Phadke
    Indian Pediatrics, 2017, 54 : 638 - 640
  • [35] LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
    Kim, Jihyun
    Kim, Mi Ri
    Kim, Hee Jung
    Lee, Kyung-A
    Lee, Min-Geol
    ANNALS OF DERMATOLOGY, 2011, 23 (02) : 232 - 235
  • [36] Electrocardiography in Noonan syndrome PTPN11 gene mutation -: phenotype characterization
    Croonen, Ellen A.
    van der Burgt, Ineke
    Kapusta, Livia
    Draaisma, Jos M. Th.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (03) : 350 - 353
  • [37] Hotspots in PTPN11 gene among Indian children with Noonan syndrome
    Narayanan, Dhanya Lakshmi
    Pandey, Himani
    Moirangthem, Amita
    Mandal, Kausik
    Gupta, Rekha
    Puri, Ratna Dua
    Patil, S. J.
    Phadke, Shubha R.
    INDIAN PEDIATRICS, 2017, 54 (08) : 638 - 640
  • [38] Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism
    Jafarov, T
    Ferimazova, N
    Reichenberger, E
    CLINICAL GENETICS, 2005, 68 (02) : 190 - 191
  • [39] Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation
    Motegi, Sei-ichiro
    Yokoyama, Yoko
    Ogino, Sachiko
    Yamada, Kazuya
    Uchiyama, Akihiko
    Perera, Buddhini
    Takeuchi, Yuko
    Ohnishi, Hiroshi
    Ishikawa, Osamu
    ACTA DERMATO-VENEREOLOGICA, 2015, 95 (08) : 978 - 984
  • [40] A Patient With LEOPARD Syndrome and PTPN11 Mutation
    Lehmann, Lorenz H.
    Schaeufele, Tim
    Buss, Sebastian J.
    Balanova, Maria
    Hartschuh, Wolfgang
    Ehlermann, Philipp
    Katus, Hugo A.
    CIRCULATION, 2009, 119 (09) : 1328 - 1329