Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology

被引：0
|
作者：
Rabjot Rai
Joe Iwanaga
Graham Dupont
Rod J. Oskouian
Marios Loukas
W. Jerry Oakes
R. Shane Tubbs
机构：
[1] Seattle Science Foundation,Department of Anatomical Sciences
[2] Swedish Neuroscience Institute,undefined
[3] Swedish Medical Center,undefined
[4] St. George’s University,undefined
[5] Children’s of Alabama,undefined
来源：
Child's Nervous System | 2019年 / 35卷
关键词：
Pfeiffer syndrome; Acrocephalosyndactyly; Craniosynostosis; Cloverleaf skull; Fibroblast growth factor receptor (FGFR);
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1451 / 1455
页数：4
相关论文
共 50 条
  • [41] THE MOLECULAR-GENETICS OF ALPORT SYNDROME - REPORT OF 2 WORKSHOPS
    FLINTER, F
    BOBROW, M
    JOURNAL OF MEDICAL GENETICS, 1992, 29 (05) : 352 - 353
  • [42] Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation
    Mandel, Jean-Louis
    Heitz, Dominique
    CURRENT OPINION IN GENETICS & DEVELOPMENT, 1992, 2 (03) : 422 - 430
  • [43] Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
    Stemerdink, M.
    Garcia-Bohorquez, B.
    Schellens, R.
    Garcia-Garcia, G.
    Van Wijk, E.
    Millan, J. M.
    HUMAN GENETICS, 2022, 141 (3-4) : 737 - 758
  • [44] Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
    M. Stemerdink
    B. García-Bohórquez
    R. Schellens
    G. Garcia-Garcia
    E. Van Wijk
    J. M. Millan
    Human Genetics, 2022, 141 : 737 - 758
  • [45] 10TH INTERNATIONAL-CONFERENCE ON YEAST GENETICS AND MOLECULAR-BIOLOGY - A REVIEW
    COOPER, TG
    CURRENT GENETICS, 1981, 3 (01) : 1 - 4
  • [46] The complex genetics and biology of human temperament: a review of traditional concepts in relation to new molecular findings
    Cloninger, C. Robert
    Cloninger, Kevin M.
    Zwir, Igor
    Keltikangas-Jarvinen, Liisa
    TRANSLATIONAL PSYCHIATRY, 2019, 9 (1)
  • [47] The complex genetics and biology of human temperament: a review of traditional concepts in relation to new molecular findings
    C. Robert Cloninger
    Kevin M. Cloninger
    Igor Zwir
    Liisa Keltikangas-Järvinen
    Translational Psychiatry, 9
  • [48] Recent advances in the molecular genetics of type 2 diabetes mellitus
    Brunetti, Antonio
    Chiefari, Eusebio
    Foti, Daniela
    WORLD JOURNAL OF DIABETES, 2014, 5 (02): : 128 - 140
  • [49] Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case
    Schaefer, F
    Anderson, C
    Can, B
    Say, B
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 75 (03): : 252 - 255
  • [50] MYELODYSPLASTIC SYNDROMES - FROM MORPHOLOGY TO MOLECULAR-BIOLOGY .2. THE MOLECULAR-GENETICS OF MYELODYSPLASIA
    STEPHENSON, J
    MUFTI, GJ
    YOSHIDA, Y
    INTERNATIONAL JOURNAL OF HEMATOLOGY, 1993, 57 (02) : 99 - 112
12345