Multiverse of Mutations: Novel Phenotype-Genotype Correlation

被引:0
|
作者
Cao, Cathy R. [1 ,2 ]
Seidman, Michael A. [1 ,2 ,3 ]
机构
[1] Univ Hlth Network, Lab Med Program, Toronto, ON, Canada
[2] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada
[3] Univ Hlth Network, Toronto Gen Hosp, 200 Elizabeth St,11E-421, Toronto, ON M5G 2C4, Canada
关键词
D O I
10.1016/j.cjca.2023.06.015
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1335 / 1337
页数:3
相关论文
共 50 条
  • [31] Phenotype-genotype correlations for clinical variants caused by CYLD mutations
    Nagy, Nikoletta
    Farkas, Katalin
    Kemeny, Lajos
    Szell, Marta
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2015, 58 (05) : 271 - 278
  • [32] Familial Mediterranean fever in Syrian children: phenotype-genotype correlation
    Jarjour, Rami A.
    Al-Berrawi, Sumaya
    RHEUMATOLOGY INTERNATIONAL, 2015, 35 (04) : 629 - 634
  • [33] A Phenotype-Genotype Correlation Study of X-Linked Retinoschisis
    Vincent, Ajoy
    Robson, Anthony G.
    Neveu, Magella M.
    Wright, Genevieve A.
    Moore, Anthony T.
    Webster, Andrew R.
    Holder, Graham E.
    OPHTHALMOLOGY, 2013, 120 (07) : 1454 - 1464
  • [34] Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome:: No phenotype-genotype correlation
    Schüle, B
    Oviedo, A
    Johnston, K
    Pai, S
    Francke, U
    AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (06) : 1117 - 1128
  • [35] Phenotype-genotype correlation in patients with the Goldmann-Favre syndrome
    Klaver, CCW
    Pachydaki, S
    Yannuzzi, LA
    Huang, SJ
    Gouras, P
    Allikmets, R
    Barbazetto, IA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U678 - U678
  • [36] Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever
    Ayaz, Nuray Aktay
    Tanatar, Ayse
    Karadag, Serife Gul
    Cakan, Mustafa
    Keskindemirci, Gonca
    Sonmez, Hafize Emine
    RHEUMATOLOGY INTERNATIONAL, 2021, 41 (01) : 113 - 120
  • [37] MUTYH gene phenotype-genotype correlation: one center experience
    Baysal, Alper
    Sakalli, Zeki
    Akin, Haluk
    Solmaz, Asli Ece
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 573 - 573
  • [38] Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type II
    Okuyama, Torayuki
    Kosuga, Motomichi
    Hirakiyama, Asami
    Mashima, Ryuichi
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S87 - S87
  • [39] Phenotype-genotype correlation in Spinal Muscular Atrophy: beyond the motorneuron
    Harding, B.
    Chung, W.
    Monani, U.
    Finkel, R.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2013, 39 : 13 - 14
  • [40] Genotyping of VWD patients in the netherlands: phenotype-genotype discrepancies and 27 novel VWF gene mutations
    Boender, J.
    Sanders, Y.
    van Heerde, W.
    Cnossen, M.
    van Gorkom, B. L.
    Fijnvandraat, K.
    Schoormans, S.
    Dors, N.
    van der Bom, J.
    Meijer, K.
    Mauser-Bunschoten, E.
    Eikenboom, J.
    Leebeek, F.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 : 101 - 101