Familial Noonan Syndrome due to mutations in PTPN11 and PLOD1 genes

被引：0
|
作者：
Chirayath, Shiga [1 ]
Mohammed, Idris [1 ]
Mohamadsalih, Ghassan [1 ]
Ben-Omran, Tawfeg [1 ]
Hussain, Khalid [1 ]
机构：
[1] Sidra Med, Doha, Qatar
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2024年 / 97卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P1-167
引用
收藏
页码：241 / 241
页数：1
相关论文
共 50 条
  • [1] Noonan syndrome: Severe phenotype and PTPN11 mutations
    Carrasco Salas, Pilar
    Gomez-Molina, Gertrudis
    Carreto-Alba, PAxedes
    Granell-Escobar, Reyes
    Vazquez-Rico, Ignacio
    Leon-Justel, Antonio
    MEDICINA CLINICA, 2019, 152 (02): : 62 - 64
  • [2] PTPN11 mutations in Noonan syndrome and hydrops fetalis.
    Jones, JR
    Wood, TC
    Whalen, MA
    Haddock-Bolt, C
    Seaver, LH
    Schroer, RJ
    Rogers, RC
    Everman, DE
    Friez, MJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 579 - 579
  • [3] Analysis of PTPN11 mutations in Japanese patients with Noonan syndrome
    Namba, N
    Ogura, E
    Morishima, T
    Seino, Y
    Tanaka, H
    PEDIATRIC RESEARCH, 2004, 55 (04) : 160A - 160A
  • [4] Mutations in the PTPN11 cause cardiac defects associated with Noonan syndrome
    Kamisago, M
    Hirayama, K
    Kato, T
    Imamura, S
    Joh, K
    Ando, M
    Takao, A
    Momma, K
    Matsuoka, R
    CIRCULATION, 2002, 106 (19) : 289 - 289
  • [5] Congenital heart defects in Noonan syndrome and PTPN11 muta□onCongenital heart defects in Noonan syndrome and PTPN11 mutation
    Popa, Laura Claudia
    Andreescu, Nicoleta
    Farcas, Simona
    Chirita-Emandi, Adela
    Puiu, Maria
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 185 - 186
  • [6] PTPN11 mutations in Noonan Syndrome type 1:: Detection of recurrent mutations in Exons 3 and 13
    Maheshwari, M
    Belmont, J
    Fernbach, S
    Ho, T
    Molinari, L
    Yakub, I
    Yu, F
    Combes, A
    Towbin, J
    Craigen, WJ
    Gibbs, R
    HUMAN MUTATION, 2002, 20 (04) : 298 - 304
  • [7] The role of PTPN11 mutations in Noonan and LEOPARD syndromes
    Short, J
    Shaw, A
    Kalidas, K
    Jeffery, S
    Patton, M
    Taylor, R
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S99 - S99
  • [8] Clinical and Hematologic Findings in Noonan Syndrome Patients With PTPN11 Gene Mutations
    Derbent, Murat
    Oncel, Yekta
    Tokel, Kursad
    Varan, Birgul
    Haberal, Aysegul
    Yazici, A. Canan
    Legius, Eric
    Ozbek, Namik
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (11) : 2768 - 2774
  • [9] Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism
    Jafarov, T
    Ferimazova, N
    Reichenberger, E
    CLINICAL GENETICS, 2005, 68 (02) : 190 - 191
  • [10] Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype
    Gulec, Elif Yilmaz
    Ocak, Zeynep
    Candan, Sukru
    Ataman, Esra
    Yarar, Coskun
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2015, 186 : 13 - 15
12345