LEOPARD syndrome: A variant of Noonan syndrome with lentigines

被引：0
|
作者：
de Santiago Garcia-Caro, Eloisa [1 ]
Pozo Guzman, Ana [2 ]
Moreno Medinilla, Esther [3 ]
机构：
[1] Hosp Reg Univ Materno Infantil, Ctr Salud Tiro Pichon, Malaga, Spain
[2] Ctr Salud Albarizas, Malaga, Spain
[3] Hosp Reg Univ, Serv Neuropediat, Malaga, Spain
来源：
ANALES DE PEDIATRIA | 2018年 / 89卷 / 01期
关键词：
D O I：
10.1016/j.anpedi.2018.01.017
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：66 / 67
页数：2
相关论文
共 50 条
  • [41] Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage
    Orrego-Gonzalez, Eduardo
    Martin-Restrepo, Carlos
    Velez-Van-Meerbeke, Alberto
    [J]. MOLECULAR SYNDROMOLOGY, 2021, 12 (01) : 57 - 63
  • [42] Low-dose Dasatinib Ameliorates Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines
    Jae-Sung Yi
    Sravan Perla
    Yan Huang
    Kana Mizuno
    Frank J. Giordano
    Alexander A. Vinks
    Anton M. Bennett
    [J]. Cardiovascular Drugs and Therapy, 2022, 36 : 589 - 604
  • [43] Low-dose Dasatinib Ameliorates Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines
    Yi, Jae-Sung
    Perla, Sravan
    Huang, Yan
    Mizuno, Kana
    Giordano, Frank J.
    Vinks, Alexander A.
    Bennett, Anton M.
    [J]. CARDIOVASCULAR DRUGS AND THERAPY, 2022, 36 (04) : 589 - 604
  • [44] Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
    Digilio, MC
    Conti, E
    Sarkozy, A
    Mingarelli, R
    Dottorini, T
    Marino, B
    Pizzuti, A
    Dallapiccola, B
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) : 389 - 394
  • [45] Characterization of a family with noonan/leopard syndrome and a PTPN11 mutation.
    Curry, CI
    Fisher, J
    O'Lague, P
    Tartaglia, M
    Gelb, B
    [J]. JOURNAL OF INVESTIGATIVE MEDICINE, 2003, 51 : S149 - S150
  • [46] Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms
    Gao, Xue
    Huang, Sha-Sha
    Qiu, Shi-Wei
    Su, Yu
    Wang, Wei-Qian
    Xu, Hui-Yan
    Xu, Jin-Cao
    Kang, Dong-Yang
    Dai, Pu
    Yuan, Yong-Yi
    [J]. JOURNAL OF MEDICAL GENETICS, 2021, 58 (07) : 465 - 474
  • [47] MULTIPLE LENTIGINES SYNDROME
    NORDLUND, JJ
    LERNER, AB
    BRAVERMAN, IM
    MCGUIRE, JS
    [J]. ARCHIVES OF DERMATOLOGY, 1973, 107 (02) : 259 - 261
  • [48] Coexisting PTPN11 and TNNT2 mutations in noonan syndrome with multiple lentigines
    Liu, H.
    Han, X.
    Chu, S.
    Ma, W.
    Ding, W.
    Li, J.
    Jiang, Y.
    [J]. QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2024, 117 (06) : 460 - 461
  • [49] New findings in Noonan syndrome and Leopard syndrome: Activating mutations in RAF-1 and SOS-1
    Dereure, O.
    [J]. ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2008, 135 (8-9): : 624 - 625
  • [50] Genotype–phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines
    Hunter Kauffman
    Rebecca C. Ahrens-Nicklas
    Renzo J. C. Calderon-Anyosa
    Alyssa L. Ritter
    Kimberly Y. Lin
    Joseph W. Rossano
    Michael D. Quartermain
    Anirban Banerjee
    [J]. Pediatric Research, 2021, 90 : 444 - 451
12345