Search for the mutation causing the ThoracoAbdominal Syndrome (TAS) an x-linked dominant disorder

被引：0
|
作者：
Majdalani, P. [1 ]
Parvari, R. [1 ]
机构：
[1] Ben Gurion Univ Negev, Beer Sheva, Israel
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P11.117A
引用
收藏
页码：505 / 505
页数：1
相关论文
共 50 条
  • [1] THE THORACOABDOMINAL SYNDROME (TAS) - A NEW X-LINKED DOMINANT DISORDER
    CARMI, R
    BARBASH, A
    MARES, AJ
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (01): : 109 - 114
  • [2] UBQLN2 Mutation Causing Heterogeneous X-Linked Dominant Neurodegeneration
    Fahed, Akl C.
    McDonough, Barbara
    Gouvion, Cynthia M.
    Newell, Kathy L.
    Dure, Leon S.
    Bebin, Martina
    Bick, Alexander G.
    Seidman, Jonathan G.
    Harter, Donald H.
    Seidman, Christine E.
    ANNALS OF NEUROLOGY, 2014, 75 (05) : 793 - 798
  • [3] Craniofacioskeletal syndrome: An X-linked dominant disorder with early lethality in males
    Stevenson, Roger E.
    Brasington, Cam K.
    Skinner, Cindy
    Simensen, Richard J.
    Spence, J. Edward
    Kesler, Shelli
    Reiss, Allan L.
    Schwartz, Charles E.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (19) : 2321 - 2329
  • [4] Refined genetic mapping of X-linked thoracoabdominal syndrome
    Parvari, R
    Carmi, R
    Weissenbach, J
    Pilia, G
    Mumm, S
    Weinstein, Y
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 61 (04): : 401 - 402
  • [5] Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata
    Tysoe, Carolyn
    Law, Caroline J.
    Caswell, Richard
    Clayton, Peter
    Ellard, Sian
    PRENATAL DIAGNOSIS, 2008, 28 (05) : 384 - 388
  • [6] BPAN: The only X-Linked Dominant NBIA Disorder
    Haack, Tobias B.
    Hogarth, Penny
    Gregory, Allison
    Prokisch, Holger
    Hayflick, Susan J.
    METAL RELATED NEURODEGENERATIVE DISEASE, 2013, 110 : 85 - 90
  • [7] Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
    Vaghani, Utsav P.
    Qadree, Abdul K.
    Mehta, Sarang
    Chaudhary, Nileshkumar S.
    Sharma, Kriti
    Chaudhary, Sachin M.
    Kelechi, Anasonye E.
    Bano, Kausar
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (11)
  • [8] X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA - OSTEOCUTANEOUS SYNDROME
    HAPPLE, R
    KASTNER, H
    HAUTARZT, 1979, 30 (11): : 590 - 594
  • [9] Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)
    Feldmeyer, L
    Mevorah, B
    Grzeschik, KH
    Huber, M
    Hohl, D
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 154 (04) : 766 - 769
  • [10] An X-linked dominant mutation in LAMEP2 causing Danon disease associated with myotonia expanding the spectrum
    Chan, S. H. S.
    Kan, A.
    Tse, H. F.
    NEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 821 - 821
12345