Phenotypic heterogeneity in lymphedema-distichiasis with FOXC2 mutations.

被引:0
|
作者
Glover, TW
Erickson, RP
Dagenais, SL
McDonald, MT
Caulder, MS
Brooks, BP
Glynn, MW
机构
[1] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
[2] Univ Arizona, Dept Pediat, Tucson, AZ 85721 USA
[3] Duke Univ, Dept Pediat, Durham, NC 27706 USA
[4] Univ Michigan, Dept Ophthalmol, Ann Arbor, MI USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2644
引用
收藏
页码:631 / 631
页数:1
相关论文
共 50 条
  • [41] c. 595-596 insC of FOXC2 Underlies Lymphedema, Distichiasis, Ptosis, Ankyloglossia, and Robin Sequence in a Thai Patient
    Tanpaiboon, Pranoot
    Kantaputra, Piranit
    Wejathikul, Karn
    Piyamongkol, Wirawit
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (03) : 737 - 740
  • [42] A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene
    Zhu, L. -L.
    Lv, Y. -N.
    Chen, H. -D.
    Gao, X. -H.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2014, 39 (06) : 731 - 733
  • [43] Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with lymphedema-distichiasis syndrome (LDS) carrying an insertion-deletion complex mutation in the FOXC2 gene
    Itoh, Munenari
    Kawagoe, Shiho
    Okano, Hirotaka James
    Nakagawa, Hidemi
    STEM CELL RESEARCH, 2016, 16 (03) : 611 - 613
  • [44] Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome
    Sutkowska, Edyta
    Gil, Justyna
    Stembalska, Agnieszka
    Hill-Bator, Aneta
    Szuba, Andrzej
    GENE, 2012, 498 (01) : 96 - 99
  • [45] Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family
    Mustacich, Debbie J.
    Lai, Li-Wen
    Bernas, Michael J.
    Jones, Jazmine A.
    Myles, Reginald J.
    Kuo, Phillip H.
    Williams, Walter H.
    Witte, Charles L.
    Erickson, Robert P.
    Witte, Marlys Hearst
    AMERICAN JOURNAL OF MEDICINE, 2022, 135 (02): : E31 - E41
  • [46] Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses
    Young, Amy E.
    Bower, Leslie P.
    Affolter, Verena K.
    De Cock, Hilde En.
    Ferraro, Gregory L.
    Bannasch, Danika L.
    VETERINARY JOURNAL, 2007, 174 (02): : 397 - 399
  • [47] Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation
    Zhang, Leilei
    He, Jie
    Han, Bing
    Lu, Linna
    Fan, Jiayan
    Zhang, He
    Ge, Shengfang
    Zhou, Yixiong
    Jia, Renbing
    Fan, Xianqun
    INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES, 2016, 12 (09): : 1114 - 1120
  • [48] Novel Missense Mutations in the FOXC2 Gene Alter Transcriptional Activity
    van Steensel, M. A. M.
    Damstra, R. J.
    Heitink, M. V.
    Bladergroen, R. S.
    Veraart, J.
    Steijlen, Peter M.
    van Geel, M.
    HUMAN MUTATION, 2009, 30 (12) : E1002 - E1009
  • [49] Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype
    Xuezhen Wang
    Lili Guo
    Bei Zhang
    Jiebin Wu
    Yu Sun
    Huimin Tao
    Jing Sha
    Jingfang Zhai
    Min Liu
    Molecular Cytogenetics, 15
  • [50] FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst
    Ogura, Yoji
    Yabuki, Shoji
    Iida, Aritoshi
    Kou, Ikuyo
    Nakajima, Masahiro
    Kano, Hiroki
    Shiina, Masaaki
    Kikuchi, Shinichi
    Toyama, Yoshiaki
    Ogata, Kazuhiro
    Nakamura, Masaya
    Matsumoto, Morio
    Ikegawa, Shiro
    PLOS ONE, 2013, 8 (11):