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
  • [21] FOXC2 truncating mutation in distichiasis lymphedema and cleft palate (DLC).
    Bahuau, M
    Soupre, V
    Couderc, R
    Vazquez, MP
    Houdayer, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 630 - 630
  • [22] Lymphedema distichiasis syndrome: dominant FOXC2 mutations causing protein aggregation and loss of transcriptional activity
    Tavian, D.
    Missaglia, S.
    Maltese, P. E.
    Michelini, S.
    Bertelli, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 152 - 153
  • [23] A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus
    Yildirim-Toruner, C
    Subramanian, K
    El Manjra, L
    Chen, E
    Goldstein, S
    Vitale, E
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 131A (03) : 281 - 286
  • [25] Distichiasis-lymphedema syndrome: Report of a family and analysis of the FOXC2 gene.
    Traboulsi, EI
    Finegold, D
    Wilson, SE
    Ferrell, R
    Meisler, DM
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S336 - S336
  • [26] Mutation of the FOXC2 gene in familial distichiasis
    Brooks, BP
    Dagenais, SL
    Nelson, CC
    Glynn, MW
    Caulder, MS
    Downs, CA
    Glover, TW
    JOURNAL OF AAPOS, 2003, 7 (05): : 354 - 357
  • [27] Truncating mutations in FOXC2 cause multiple lymphedema syndromes
    Finegold, DN
    Kimak, MA
    Lawrence, EC
    Levinson, KL
    Cherniske, EM
    Pober, BR
    Dunlap, JW
    Ferrell, RE
    HUMAN MOLECULAR GENETICS, 2001, 10 (11) : 1185 - 1189
  • [28] Distichiasis in a patient with a deletion downstream FOXC2 gene
    Mouhoub, Tarik Ait
    Landais, Emilie
    Delemer, Brigitte
    Ducasse, Alain
    Doco-Fenzy, Martine
    CHROMOSOME RESEARCH, 2015, 23 : S61 - S62
  • [29] Analysis of the phenotypic abnormalities in Lymphoedema Distichiasis Syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
    Mansour, S
    Brice, G
    Murday, V
    Jeffery, S
    Mortimer, P
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 66 - 66
  • [30] Mutation of the FOXC2 gene in a family with hereditary distichiasis
    Brooks, BP
    Dagenais, SL
    Glynn, MW
    Nelson, CC
    Caulder, MS
    Downs, CA
    Glover, TW
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U569 - U569