Congenital hypertelorism and osteopenia: A novel autosomal recessive disease

被引:0
|
作者
Bonnard, Carine [1 ]
Merriman, Barry [2 ]
Lee, Hane [2 ]
Kayserili, Hulya [3 ]
Akarsu, Nurten [4 ]
Strobl, Anna [1 ]
Shboul, Mohammad [1 ]
Hamamy, Hanan [5 ]
Reversade, Bruno [1 ]
机构
[1] ASTAR, Inst Med Biol, Singapore, Singapore
[2] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA USA
[3] Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey
[4] Hacettepe Univ, Fac Med, Dept Med Genet, Sihhiye, Turkey
[5] Natl Ctr Diabet Endocrinol & Genet, Amman, Jordan
关键词
D O I
10.1016/j.diff.2010.09.112
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
引用
收藏
页码:S52 / S52
页数:1
相关论文
共 50 条
  • [1] Congenital hypertelorism & osteopenia, a novel autosomal recessive disease of development
    Bonnard, Carine
    Shboul, Mohammad
    Akarsu, Nurten
    Kayserili, Hulya
    Merriman, Barry
    Lee, Hane
    Hamamy, Hanan
    Reversade, Bruno
    MECHANISMS OF DEVELOPMENT, 2009, 126 : S128 - S128
  • [2] HIRSCHSPRUNG DISEASE ASSOCIATED WITH POLYDACTYLY, UNILATERAL RENAL AGENESIS, HYPERTELORISM, AND CONGENITAL DEAFNESS - A NEW AUTOSOMAL RECESSIVE SYNDROME
    SANTOS, H
    MATEUS, J
    LEAL, MJ
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (03) : 204 - 205
  • [3] AUTOSOMAL RECESSIVE INHERITANCE OF A SYNDROME OF HYPERTELORISM, HYPOSPADIAS, AND TETRALOGY OF FALLOT
    FARAG, TI
    TEEBI, AS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (04): : 516 - 518
  • [4] Autosomal Recessive Congenital Ichthyosis
    Rodriguez-Pazos, L.
    Ginarte, M.
    Vega, A.
    Toribio, J.
    ACTAS DERMO-SIFILIOGRAFICAS, 2013, 104 (04): : 270 - 284
  • [5] Autosomal Recessive Congenital Ichthyosis
    Fischer, Judith
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (06) : 1319 - 1321
  • [6] Study of a novel autosomal recessive minicore disease
    Yau, K. S.
    Lamont, P. J.
    Fabian, V.
    Kresoje, N.
    Sivadorai, P.
    Allcock, R.
    Davis, M.
    Laing, N. G.
    NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 842 - 842
  • [7] Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease
    Wen, Jessica
    CTS-CLINICAL AND TRANSLATIONAL SCIENCE, 2011, 4 (06): : 460 - 465
  • [8] Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease
    Srinath, Arvind
    Shneider, Benjamin L.
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2012, 54 (05): : 580 - 587
  • [9] Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease
    Gunay-Gun, M.
    Font-Montgomery, E.
    Lukose, L.
    PRACTICAL GASTROENTEROLOGY, 2013, 37 (04) : 54 - 54
  • [10] Identification of a novel causative gene responsible for autosomal recessive congenital ichthyosis
    Shigehara, Y.
    Okuda, S.
    Hayashi, R.
    Nakai, H.
    Abe, R.
    Kibbi, A. Ghani
    Kurban, M.
    Shimomura, Y.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (05) : S85 - S85