LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review

被引:0
|
作者
Zhou, Yingwen [1 ,2 ,3 ]
Yang, Kai [3 ]
Ma, Kai [2 ,4 ]
Lu, Minjie [1 ,2 ]
机构
[1] Chinese Acad Med Sci & Peking Union Med Coll, Fuwai Hosp, Dept Magnet Resonance Imaging, Beijing, Peoples R China
[2] Chinese Acad Med Sci & Peking Union Med Coll, Natl Ctr Cardiovasc Dis, Beijing, Peoples R China
[3] Cangzhou Cent Hosp, Dept Magnet Resonance Imaging, Cangzhou, Peoples R China
[4] Chinese Acad Med Sci & Peking Union Med Coll, Fuwai Hosp, Dept Echocardiog, Beijing, Peoples R China
来源
ESC HEART FAILURE | 2025年 / 12卷 / 01期
关键词
LEOPARD syndrome; Noonan syndrome; CMR; hypertrophic cardiomyopathy; HYPERTROPHIC CARDIOMYOPATHY; NOONAN SYNDROME; OUTCOMES;
D O I
10.1002/ehf2.15014
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:664 / 667
页数:4
相关论文
共 50 条
  • [1] PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”
    M. Cristina Digilio
    Anna Sarkozy
    Giuseppe Pacileo
    Giuseppe Limongelli
    Bruno Marino
    Bruno Dallapiccola
    European Journal of Pediatrics, 2006, 165 : 803 - 805
  • [2] PTPN11 gene mutations:: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype"
    Digilio, M. Cristina
    Sarkozy, Anna
    Pacileo, Giuseppe
    Limongelli, Giuseppe
    Marino, Bruno
    Dallapiccola, Bruno
    EUROPEAN JOURNAL OF PEDIATRICS, 2006, 165 (11) : 803 - 805
  • [3] A novel PTPN11 missense mutation in a patient with LEOPARD syndrome
    Osawa, R.
    Akiyama, M.
    Yamanaka, Y.
    Ujie, H.
    Nemoto-Hasebe, I.
    Takeda, A.
    Yanagi, T.
    Shimizu, H.
    BRITISH JOURNAL OF DERMATOLOGY, 2009, 161 (05) : 1202 - 1204
  • [4] LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene
    Martinez-Quintana, E.
    Rodriguez-Gonzalez, F.
    MOLECULAR SYNDROMOLOGY, 2011, 2 (06) : 251 - 253
  • [5] LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
    Ganigara, Madhusudan
    Prabhu, Atul
    Kumar, Raghvannair Suresh
    ANNALS OF PEDIATRIC CARDIOLOGY, 2011, 4 (01) : 74 - 76
  • [6] 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
  • [7] LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes
    Alfurayh, Nuha
    Alsaif, Fahad
    Alballa, Nouf
    Zeitouni, Leena
    Ramzan, Khushnooda
    Imtiaz, Faiqa
    Alakeel, Abdullah
    JOURNAL OF PEDIATRIC GENETICS, 2020, 09 (04) : 246 - 251
  • [8] 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
  • [9] LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature
    Kalev, Ingrid
    Muru, Kai
    Teek, Rita
    Zordania, Riina
    Reimand, Tiia
    Koebas, Kristel
    Ounap, Katrin
    EUROPEAN JOURNAL OF PEDIATRICS, 2010, 169 (04) : 469 - 473
  • [10] PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain
    Spatola, Marianna
    Wider, Christian
    Kuntzer, Thierry
    Croquelois, Alexandre
    BMC NEUROLOGY, 2015, 15