Spondyloepimetaphyseal Dysplasia: A Distinctive Phenotype In A Three-Generation Family

被引:0
|
作者
Gottesman, Gary [1 ]
McAlister, William [2 ]
Whyte, Michael P. [1 ]
机构
[1] Shriners Hosp Children St Louis, St Louis, MO USA
[2] Washington Univ, Sch Med, St Louis, MO 63130 USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
SU0170
引用
收藏
页数:2
相关论文
共 50 条
  • [1] Progressive diaphyseal dysplasia: A three-generation family with markedly variable expressivity
    Saraiva, JM
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 71 (03): : 348 - 352
  • [2] Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family
    Kornfeld, SJ
    Haire, RN
    Strong, SJ
    Brigino, EN
    Tang, HY
    Sung, SSJ
    Fu, SM
    Litman, GW
    [J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 1997, 100 (05) : 702 - 706
  • [3] Family dynamics in three-generation grandfamilies
    Goodman, Catherine Chase
    [J]. JOURNAL OF FAMILY ISSUES, 2007, 28 (03) : 355 - 379
  • [4] Family history: The three-generation pedigree
    Wattendorf, DJ
    Hadley, DW
    [J]. AMERICAN FAMILY PHYSICIAN, 2005, 72 (03) : 441 - 448
  • [5] Spondyloepimetaphyseal Dysplasia Pakistani Type: Expansion of the Phenotype
    Tuysuz, Beyhan
    Yilmaz, Saliha
    Gul, Ece
    Kolb, Luis
    Bilguvar, Kaya
    Evliyaoglu, Olcay
    Gunel, Murat
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (06) : 1300 - 1308
  • [6] Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
    Quitter, Friederike
    Flury, Monika
    Waldmueller, Stephan
    Schubert, Tina
    Koehler, Katrin
    Huebner, Angela
    [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (11): : 1443 - 1447
  • [7] Expansile bone lesions in a three-generation family
    Dinulos, MB
    Sternen, DL
    Graham, CB
    Hudgins, L
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 82 (01): : 1 - 5
  • [8] Aetiological Evaluation of oligodontia in a Three-Generation Family
    Ergun, Sezen Guntekin
    Tuncer, Burcu Balos
    Ergun, Mehmet Ali
    Kolbasi, Guyem
    Orhan, Metin
    Percin, Ferda E.
    [J]. ORAL HEALTH & PREVENTIVE DENTISTRY, 2020, 18 (02) : 271 - 275
  • [9] The Matryoshka: The three-generation Soviet family in Israel
    Poskanzer, A
    [J]. CONTEMPORARY FAMILY THERAPY, 1995, 17 (04): : 413 - 427
  • [10] Three-Generation Family Households: Differences by Family Structure at Birth
    Pilkauskas, Natasha V.
    [J]. JOURNAL OF MARRIAGE AND FAMILY, 2012, 74 (05) : 931 - 943