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
  • [41] A LETHAL AUTOSOMAL RECESSIVE SYNDROME OF MULTIPLE CONGENITAL CONTRACTURES
    HERVA, R
    LEISTI, J
    KIRKINEN, P
    SEPPANEN, U
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (03): : 431 - 439
  • [42] Psychosocial impact of severe autosomal recessive congenital ichthyosis
    Raj, Christina
    Singh, Shrishti
    Gupta, Aayush
    BRITISH JOURNAL OF DERMATOLOGY, 2024, 190 (04) : 565 - 566
  • [43] Otologic Manifestations of Autosomal Recessive Congenital Ichthyosisin Children
    Martin-Santiago, A.
    Rodriguez-Pascual, M.
    Knoepfel, N.
    Hernandez-Martin, A.
    ACTAS DERMO-SIFILIOGRAFICAS, 2015, 106 (09): : 733 - 739
  • [44] AUTOSOMAL RECESSIVE INHERITANCE OF CONGENITAL GOITER IN AFRIKANDER CATTLE
    RICKETTS, MH
    SCHULZ, K
    VANZYL, A
    BESTER, AJ
    BOYD, CD
    MEINHOLD, H
    VANJAARSVELD, PP
    JOURNAL OF HEREDITY, 1985, 76 (01) : 12 - 16
  • [45] A Case Report on Autosomal Recessive Total Congenital Anonychia
    Balta, Ilknur
    Kalkan, Goknur
    PEDIATRIC DERMATOLOGY, 2013, 30 (06) : E268 - E269
  • [46] THE CONGENITAL AUTOSOMAL RECESSIVE FORM OF FAMILIAL SPASTIC PARAPLEGIA
    BADALYAN, LO
    UMAKHANOV, RU
    TEMIN, PA
    ARKHIPOV, BA
    BULAEVA, NV
    SAKIDEBIROV, GM
    ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA, 1991, 91 (08): : 97 - 99
  • [47] Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: Patient report
    Jeha, GS
    Tatevian, N
    Heptulla, RA
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2005, 18 (03): : 315 - 318
  • [48] Autosomal recessive polycystic kidney disease
    K. Zerres
    Sabine Rudnik-Schöneborn
    Carsten Steinkamm
    Jutta Becker
    Gabi Mücher
    Journal of Molecular Medicine, 1998, 76 : 303 - 309
  • [49] Autosomal recessive polycystic kidney disease
    Zerres, K
    RudnikSchoneborn, S
    Steinkamm, C
    Mucher, G
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 1996, 11 : 29 - 33
  • [50] IDIOPATHIC HEMOCHROMATOSIS - AUTOSOMAL RECESSIVE DISEASE
    SADDI, R
    SEMAINE DES HOPITAUX, 1973, 49 (19): : 1386 - 1386