A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review

被引:0
|
作者
Xiu Zhao
Zhuoguang Li
Li Wang
Zhangzhang Lan
Feifei Lin
Wenyong Zhang
Zhe Su
机构
[1] Shenzhen Children’s Hospital,Endocrinology Department
[2] School of Medicine,Radiology Department
[3] Southern University of Science and Technology,undefined
[4] Shenzhen Children’s Hospital,undefined
来源
关键词
Noonan syndrome; Autosomal dominant; Growth hormone deficiency;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review
    Zhao, Xiu
    Li, Zhuoguang
    Wang, Li
    Lan, Zhangzhang
    Lin, Feifei
    Zhang, Wenyong
    Su, Zhe
    BMC ENDOCRINE DISORDERS, 2021, 21 (01)
  • [2] Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature
    Orsolini, Francesca
    Pignata, Luisa
    Baldinotti, Fulvia
    Romano, Silvia
    Tonacchera, Massimo
    Canale, Domenico
    FRONTIERS IN ENDOCRINOLOGY, 2024, 15
  • [3] A Novel Heterozygous Missense Variant in the LZTR1 Gene as a cause of Noonan Syndrome
    Dateki, Sumito
    Watanabe, Satoshi
    Yoshiura, Koh-ichiro
    Moriuchi, Hiroyuki
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 446 - 446
  • [4] LZTR1: Genotype Expansion in Noonan Syndrome
    Guemes, Maria
    Martin-Rivada, Alvaro
    Ortiz-Cabrera, Neimar Valentina
    Martos-Moreno, Gabriel Angel
    Pozo-Roman, Jesus
    Argente, Jesus
    HORMONE RESEARCH IN PAEDIATRICS, 2020, 92 (04): : 269 - 275
  • [5] Recessive and dominant patterns in Noonan Syndrome associated with LZTR1 variants
    Cambra, A.
    Lopez-Blazquez, M.
    Sanchez del Pozo, J.
    Cruz-Rojo, J.
    Guemes, M.
    Carcavilla, A.
    Seidel, V.
    Medrano, C.
    Ezquieta, B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 223 - 223
  • [6] Providing more evidence on LZTR1 variants in Noonan syndrome patients
    Chinton, Josefina
    Huckstadt, Victoria
    Mucciolo, Mafalda
    Lepri, Francesca
    Novelli, Antonio
    Pablo Gravina, Luis
    Gabriela Obregon, Maria
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (02) : 409 - 414
  • [7] Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
    Johnston, Jennifer J.
    van der Smagt, Jasper J.
    Rosenfeld, Jill A.
    Pagnamenta, Alistair T.
    Alswaid, Abdulrahman
    Baker, Eva H.
    Blair, Edward
    Borck, Guntram
    Brinkmann, Julia
    Craigen, William
    Vu Chi Dung
    Emrick, Lisa
    Everman, David B.
    van Gassen, Koen L.
    Gulsuner, Suleyman
    Harr, Margaret H.
    Jain, Mahim
    Kuechler, Alma
    Leppig, Kathleen A.
    McDonald-McGinn, Donna M.
    Ngoc Thi Bich Can
    Peleg, Amir
    Roeder, Elizabeth R.
    Rogers, R. Curtis
    Sagi-Dain, Lena
    Sapp, Julie C.
    Schaffer, Alejandro A.
    Schanze, Denny
    Stewart, Helen
    Taylor, Jenny C.
    Verbeek, Nienke E.
    Walkiewicz, Magdalena A.
    Zackai, Elaine H.
    Zweier, Christiane
    Zenker, Martin
    Lee, Brendan
    Biesecker, Leslie G.
    GENETICS IN MEDICINE, 2018, 20 (10) : 1175 - 1185
  • [8] LZTR1 haploinsufficiency: a cardiology case report
    Pt, Do
    Liu, R.
    Pomianowski, M.
    Miller, Am
    Gandhi, N.
    Pomianowski, P.
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2025, 369 : S54 - S55
  • [9] A novel missense variant in the LZTR1 gene in a patient with an overlapping phenotype of autosomal dominant Noonan Syndrome and Schwannomatosis
    Calosci, Davide
    Passaglia, Lisa
    Calo, Annapaola
    Rigon, Chiara
    Ali, Dario Seif
    Bertolin, Cinzia
    Trevisson, Eva
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1127 - 1128
  • [10] Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon
    Talley, Mary Jo
    Nardini, Diana
    Shabbir, Nisha
    Ehrman, Lisa A.
    Prada, Carlos E.
    Waclaw, Ronald R.
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9