Genotype–phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines

被引：0
|
作者：
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
机构：
[1] The Children’s Hospital of Philadelphia,Division of Cardiology, Department of Pediatrics
[2] The Children’s Hospital of Philadelphia,Division of Human Genetics and Metabolism, Department of Pediatrics
[3] McGill University,undefined
来源：
Pediatric Research | 2021年 / 90卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：444 / 451
页数：7
相关论文
共 50 条
  • [21] Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis
    Lozano-Masdemont, B.
    Rojas-Calva, J.
    Darnaude-Ortiz, M. T.
    ACTAS DERMO-SIFILIOGRAFICAS, 2021, 112 (09): : 845 - 846
  • [22] Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations
    Ostman-Smith, Ingegerd
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2023, 16 (04): : 359 - 362
  • [23] The Face of Noonan Syndrome: Does Phenotype Predict Genotype
    Allanson, Judith E.
    Bohring, Axel
    Dorr, Helmuth-Guenther
    Dufke, Andreas
    Gillessen-Kaesbach, Gabrielle
    Horn, Denise
    Koenig, Rainer
    Kratz, Christian P.
    Kutsche, Kerstin
    Pauli, Silke
    Raskin, Salmo
    Rauch, Anita
    Turner, Anne
    Wieczorek, Dagmar
    Zenker, Martin
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 1960 - 1966
  • [24] Noonan syndrome with multiple lentigines identified by next-generation sequencing
    McDonald, B.
    Amieva, M.
    Kelsell, D. P.
    O'Toole, E. A.
    Burkett-Wright, E.
    Kerr, B.
    Batta, K.
    BRITISH JOURNAL OF DERMATOLOGY, 2016, 175 : 55 - 55
  • [25] Genotype and phenotype in patients with Noonan syndrome caused by SOS2 variants
    Lissewski, C.
    Chune, V.
    Pantaleoni, F.
    De Luca, A.
    Capri, Y.
    Brinkmann, J.
    Lepri, F.
    Daniele, P.
    Leenders, E.
    Mazzanti, L.
    Kutsche, K.
    Kuchler, A.
    Gerard, M.
    Amiel, J.
    Vial, Y.
    van der Burgt, I.
    Andreucci, E.
    Mastromoro, G.
    Digilio, M. C.
    Cave, H.
    Tartaglia, M.
    Zenker, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 475 - 476
  • [26] RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
    Rodriguez, Fernando
    Ponce, Diana
    Berward, Francisco J.
    Lopetegui, Bernardita
    Cassorla, Fernando
    Aracena, Mariana
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (08) : 1598 - 1602
  • [27] Phenotype characterization in patients with Noonan syndrome
    Sukarova-Angelovska, E.
    Kocova, M.
    Kacarska, R.
    Lee, B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1000 - 1000
  • [28] Defining the Cardiovascular Genotype-Phenotype Correlations in Noonan Syndrome
    Prendiville, Terence W.
    Gauvreau, Kimberlee
    Lacro, Ronald
    Tworog-Dube, Erica
    Kucherlapati, Raju
    Roberts, Amy E.
    CIRCULATION, 2010, 122 (21)
  • [29] Genotype-Phenotype Variations and Spectrum of Malignancies in Patients with Noonan Syndrome: A Review of Literature
    Eissa, S.
    El Haddad, A.
    PEDIATRIC BLOOD & CANCER, 2018, 65 : S643 - S643
  • [30] Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement
    Fan, Linghua
    Jiang, Jie
    Zhang, Yan
    Han, Xiaoning
    Ding, Wenhui
    Xue, Xiaodi
    Jiang, Yimeng
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2025, 12
12345