A novel TBX3 frameshift mutation in a patient with Ulnar-Mammary syndrome.

被引：0
|
作者：
Jobard, A [1 ]
La Merrer, M [1 ]
Audollent, S [1 ]
Augé, J [1 ]
Martinovic, J [1 ]
Munnich, A [1 ]
Vekemans, M [1 ]
Attié-Bitach, T [1 ]
机构：
[1] Hop Necker Enfants Malad, INSERM, Dept Genet, U393, Paris, France
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 04期
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：
2132
引用
收藏
页码：381 / 381
页数：1
相关论文
共 50 条
  • [41] Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome
    Bamshad, M
    Root, S
    Carey, JC
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 65 (04): : 325 - 331
  • [42] Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome
    Galazzi, Elena
    Duminuco, Paolo
    Moro, Mirella
    Guizzardi, Fabiana
    Marazzi, Nicoletta
    Sartorio, Alessandro
    Avignone, Sabrina
    Bonomi, Marco
    Persani, Luca
    Bonati, Maria Teresa
    ENDOCRINE CONNECTIONS, 2018, 7 (12): : 1432 - 1441
  • [43] POSSIBLE RELATIONSHIP BETWEEN ULNAR-MAMMARY SYNDROME AND SPLIT HAND WITH APLASIA OF THE ULNA SYNDROME
    FRANCESCHINI, P
    VARDEU, MP
    DALFORNO, L
    SIGNORILE, F
    FRANCESCHINI, D
    LALA, R
    MATARAZZO, P
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (06): : 807 - 812
  • [44] TBX3基因突变导致Ulnar-Mammary综合征一例的临床及分子遗传学分析并文献复习
    王晓艳
    陈秀丽
    吴海瑛
    谢蓉蓉
    王凤云
    陈婷
    孙辉
    张丹丹
    陈临琪
    中华内分泌代谢杂志, 2020, 36 (07) : 593 - 597
  • [45] A Rare Case of Hypogonadotropic Hypogonadism Associated With Skeletal Anomalities: Ulnar-Mammary Syndrome
    Mancioppi, Valentina
    Cavarzere, Paolo
    Lupieri, Valentina
    Battiston, Riccardo
    Morandi, Anita
    Maffeis, Claudio
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 442 - 442
  • [46] Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome
    Crow, YJ
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (02) : 233 - 233
  • [47] Infant with osteosclerotic metaphyseal dysplasia and TBX3 gene mutation
    Panigrahi, I.
    Kaur, A.
    Sankhyan, N.
    Sawhney, J.
    NEW BIOTECHNOLOGY, 2018, 44 : S2 - S3
  • [48] Novel function of Tbx3 in early mouse palatogenesis
    Lee, J. M.
    Cho, K. W.
    Kim, J. Y.
    Cho, S. W.
    Lee, M. J.
    Jung, H. S.
    MECHANISMS OF DEVELOPMENT, 2005, 122 : S48 - S49
  • [49] A GENE FOR ULNAR-MAMMARY SYNDROME MAPS TO 12Q23-Q24.1
    BAMSHAD, M
    KRAKOWIAK, PA
    WATKINS, WS
    ROOT, S
    CAREY, JC
    JORDE, LB
    HUMAN MOLECULAR GENETICS, 1995, 4 (10) : 1973 - 1977
  • [50] A GENE FOR ULNAR-MAMMARY SYNDROME MAPS TO 12Q23-Q24.1
    BAMSHAD, M
    KRAKOWIAK, PA
    WATKINS, WS
    ROOT, S
    CAREY, JC
    JORDE, LB
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1068 - 1068
12345