AUTOSOMAL DOMINANT PARTIAL LIPODYSTROPHY ASSOCIATED WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC DIABETES

被引：44
|
作者：
AARSKOG, D
OSE, L
PANDE, H
EIDE, N
机构：
[1] NORDLAND CENT HOSP,DEPT PEDIAT,BODO,NORWAY
[2] NORDLAND CENT HOSP,DEPT OPHTHALMOL,BODO,NORWAY
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1983年 / 15卷 / 01期
关键词：
D O I：
10.1002/ajmg.1320150104
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：29 / 38
页数：10
相关论文
共 50 条
  • [31] Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?
    Cauwels, RGEC
    De Coster, PJ
    Mortier, GR
    Marks, LAM
    Martens, LC
    JOURNAL OF ORAL PATHOLOGY & MEDICINE, 2005, 34 (07) : 444 - 446
  • [32] Diabetes associated with mitochondrial cytopathies autosomal dominant transmission. A case of nuclear mutation Twinkle
    Wilhelm, J. M.
    de Camret, B. Mousson
    Rozan-Rodier, S.
    Derragui, A.
    Thannberger, P.
    Saraceni, O.
    DIABETES & METABOLISM, 2009, 35 : A56 - A56
  • [33] LIPODYSTROPHY OF EXTREMITIES ASSOCIATED WITH LAWRENCE-TYPE OF DIABETES-MELLITUS - NEW SYNDROME WITH PROBABLE DOMINANT INHERITANCE
    KOBBERLI.J
    WILLMS, B
    KATTERMA.R
    CREUTZFELDT, W
    DIABETOLOGIA, 1974, 10 (04) : 373 - 373
  • [34] Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
    Owen M Siggs
    Shari Javadiyan
    Shiwani Sharma
    Emmanuelle Souzeau
    Karen M Lower
    Deepa A Taranath
    Jo Black
    John Pater
    John G Willoughby
    Kathryn P Burdon
    Jamie E Craig
    European Journal of Human Genetics, 2017, 25 : 711 - 718
  • [35] Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
    Siggs, Owen M.
    Javadiyan, Shari
    Sharma, Shiwani
    Souzeau, Emmanuelle
    Lower, Karen M.
    Taranath, Deepa A.
    Black, Jo
    Pater, John
    Willoughby, John G.
    Burdon, Kathryn P.
    Craig, Jamie E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (06) : 711 - 718
  • [36] Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
    Vermeer, Alexa M. C.
    van Engelen, Klaartje
    Postma, Alex V.
    Baars, Marieke J. H.
    Christiaans, Imke
    De Haij, Simone
    Klaassen, Sabine
    Mulder, Barbara J. M.
    Keavney, Bernard
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2013, 163 (03) : 178 - 184
  • [37] Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature
    Thiel, C. T.
    Hauer, N.
    Vogl, C.
    Uebe, S.
    Sticht, H.
    Ekici, A. B.
    Kraus, C.
    Doerr, H.
    Reis, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 240 - 240
  • [38] DELETION OF PART OF THE SHORT ARM OF CHROMOSOME-10, ASSOCIATED WITH RIEGER SYNDROME AND PARTIAL IMMUNODEFICIENCY OF THE DIGEORGE-TYPE
    HERVE, J
    WARNET, JF
    JEANEAUBELLEGO, E
    PORTNOI, MF
    TAILLEMITTE, JL
    HERVE, F
    ANNALES DE PEDIATRIE, 1984, 31 (01): : 77 - 80
  • [39] Autosomal Dominant Polycystic Kidney Disease Is Not Associated with Increased Risk of Post-Transplant Diabetes Mellitus
    Mohammadi, Sabahi Z.
    Ghaffari, Ali
    Shamspoor, Saber
    Zare, Maryam
    Bagheri, Faride
    Rad, Mohammad Ghasemi
    Behmagham, Elmira
    Kameli, Amir
    Nasiri, Mahya
    Balaneji, Shabnam
    EUROPEAN JOURNAL OF MEDICAL RESEARCH, 2009, 14 : 148 - 148
  • [40] A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus
    Rauch, F
    Lenzner, C
    Nurnberg, P
    Frommel, C
    Vetter, U
    CLINICAL ENDOCRINOLOGY, 1996, 44 (01) : 45 - 51
12345