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
  • [31] MOLECULAR-GENETICS OF LARON-TYPE GH INSENSITIVITY SYNDROME
    GOOSSENS, M
    AMSELEM, S
    DUQUESNOY, P
    SOBRIER, ML
    RECENT PROGRESS IN HORMONE RESEARCH, VOL 48, 1993, 48 : 165 - 178
  • [32] Molecular Genetics of Type 2 von Willebrand Disease
    Edith Fressinaud
    Claudine Mazurier
    Dominique Meyer
    International Journal of Hematology, 2002, 75 : 9 - 18
  • [33] Molecular genetics of type 2 von Willebrand disease
    Fressinaud, E
    Mazurier, C
    Meyer, D
    INTERNATIONAL JOURNAL OF HEMATOLOGY, 2002, 75 (01) : 9 - 18
  • [34] Boosting the potential of cattle breeding using molecular biology, genetics, and bioinformatics approaches - a review
    Cechova, Monika
    Andrlikova, Michaela
    ACTA VETERINARIA BRNO, 2021, 90 (02) : 145 - +
  • [35] HNPCC (Lynch Syndrome): Differential Diagnosis, Molecular Genetics and Management - a Review
    Henry T. Lynch
    Jane F. Lynch
    Trudy G. Shaw
    Jan Lubiński
    Hereditary Cancer in Clinical Practice, 1 (1)
  • [36] Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene
    Priolo, M
    Lerone, M
    Baffico, M
    Baldi, M
    Ravazzolo, R
    Cama, A
    Capra, V
    Silengo, M
    CLINICAL GENETICS, 2000, 58 (01) : 81 - 83
  • [37] The molecular genetics of type-4 fimbriae in Pseudomonas aeruginosa - A review
    Mattick, JS
    Whitchurch, CB
    Alm, RA
    GENE, 1996, 179 (01) : 147 - 155
  • [38] The genetics of type 2 diabetes and its clinical relevance
    Pal, A.
    McCarthy, M. I.
    CLINICAL GENETICS, 2013, 83 (04) : 297 - 306
  • [39] Genetics of type 2 diabetes mellitus and obesity - a review
    Jafar-Mohammadi, Bahram
    Mccarthy, Mark I.
    ANNALS OF MEDICINE, 2008, 40 (01) : 2 - 10
  • [40] Update on BRCA1 and BRCA2: Molecular biology and genetics
    Weber, BL
    EUROPEAN JOURNAL OF CANCER, 1999, 35 : S223 - S223