Ellis-van Creveld syndrome and the Amish

被引：46
|
作者：
McKusick, VA [1 ]
机构：
[1] Johns Hopkins Univ Hosp, Inst Med Genet, Baltimore, MD 21287 USA
来源：
NATURE GENETICS | 2000年 / 24卷 / 03期
关键词：
D O I：
10.1038/73389
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Genetic studies often involve the cooperation of large numbers of affected persons and their families. The discovery of the gene that, when mutated, causes a form of dwarfism (Ellis-van Creveld syndrome) has been accelerated through a collaborative effort between geneticists and the Old Order Amish, of Lancaster County, Pennsylvania.
引用
收藏
页码：203 / 204
页数：2
相关论文
共 50 条
  • [21] Nephronophthisis associated with Ellis-van Creveld syndrome
    Moudgil, A
    Bagga, A
    Kamil, ES
    Rimoin, DL
    Lachman, RS
    Cohen, AH
    Jordan, SC
    PEDIATRIC NEPHROLOGY, 1998, 12 (01) : 20 - 22
  • [22] ELLIS-VAN CREVELD SYNDROME - REPORT OF A CASE
    EIDELMAN, E
    ODONT, D
    ROSENZWEIG, KA
    ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 1965, 20 (02): : 174 - +
  • [23] ORAL MANIFESTATIONS OF ELLIS-VAN CREVELD SYNDROME
    BIGGERSTAFF, RH
    MAZAHERI, M
    JOURNAL OF THE AMERICAN DENTAL ASSOCIATION, 1968, 77 (05): : 1090 - +
  • [24] Anaesthetic challenges of Ellis-van Creveld syndrome
    Kaur, Manpreet
    Dass, Christopher
    JOURNAL OF CLINICAL ANESTHESIA, 2018, 47 : 60 - 61
  • [25] Anesthetic implications of Ellis-van Creveld syndrome
    Abeles, Andrew I.
    Tobias, Joseph D.
    JOURNAL OF CLINICAL ANESTHESIA, 2008, 20 (08) : 618 - 621
  • [26] Ellis-van Creveld syndrome: a case report
    Hameed, Marya
    Jesrani, Ameet Kumar
    Tariq, Syed Maaz
    Hanif, Hina
    Bansari, Suneeta
    Kumar, Ashok
    JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION, 2024, 74 (02) : 391 - 393
  • [27] Nephronophthisis associated with Ellis-van Creveld syndrome
    Asha Moudgil
    Arvind Bagga
    Elaine S. Kamil
    David L. Rimoin
    Ralph S. Lachman
    Arthur H. Cohen
    Stanley C. Jordan
    Pediatric Nephrology, 1998, 12 : 20 - 22
  • [28] Ellis-van Creveld syndrome: its history
    Muensterer, Oliver J.
    Berdon, Walter
    McManus, Chris
    Oestreich, Alan
    Lachman, Ralph S.
    Cohen, M. Michael, Jr.
    Done, Stephen
    PEDIATRIC RADIOLOGY, 2013, 43 (08) : 1030 - 1036
  • [29] Spinal stenosis in Ellis-van Creveld syndrome
    Wright, M
    Ain, M
    Elmaci, I
    Hurko, O
    Rigamonti, D
    JOURNAL OF MEDICAL GENETICS, 1999, 36 : S67 - S67
  • [30] ELLIS-VAN CREVELD SYNDROME IN IDENTICAL TWINS
    GOOR, D
    ROTEM, Y
    FRIEDMAN, A
    NEUFELD, HN
    BRITISH HEART JOURNAL, 1965, 27 (06): : 797 - &
12345