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
  • [21] A CASE OF X-LINKED DOMINANT CONRADI-HUNERMANN SYNDROME
    HERVE, A
    MAROTEAUX, P
    DENOIX, C
    WECHSLER, J
    POLI, F
    REVUZ, J
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 1991, 118 (11): : 790 - 791
  • [22] FAMILIAL PTERYGIUM SYNDROME WITH POSSIBLE X-LINKED DOMINANT INHERITANCE
    CARNEVAL.A
    HERNANDE.AL
    DELOSCOB.L
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1973, 25 (03): : 237 - 244
  • [23] A SEARCH FOR SUBMICROSCOPIC DELETIONS IN X-LINKED DOMINANT CHONDRODYSPLASIA-PUNCTATA
    HERMAN, GE
    JASKOSKI, B
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (01): : 140 - 140
  • [24] A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome
    Kim, Hyung Young
    Um, Tae Min
    Park, Hee Ju
    INDIAN JOURNAL OF PEDIATRICS, 2018, 85 (09): : 788 - 789
  • [25] De novo mutation causing X-linked hyper-IgM syndrome:: A family study in Taiwan
    Ma, YC
    Lee, WI
    Shyur, SD
    Lin, SC
    Huang, LH
    Wu, JY
    ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, 2005, 23 (01): : 53 - 59
  • [26] A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome
    Hyung Young Kim
    Tae Min Um
    Hee Ju Park
    The Indian Journal of Pediatrics, 2018, 85 : 788 - 789
  • [27] MAPPING THE MUTATION CAUSING THE X-LINKED LYMPHOPROLIFERATIVE SYNDROME IN RELATION TO RESTRICTION FRAGMENT LENGTH POLYMORPHISMS ON XQ
    SKARE, JC
    SULLIVAN, JL
    MILUNSKY, A
    HUMAN GENETICS, 1989, 82 (04) : 349 - 353
  • [28] FAMILIAL BAND HETEROTOPIAS - AN X-LINKED DOMINANT DISORDER WITH VARIABLE SEVERITY
    SCHEFFER, IE
    MITCHELL, LA
    HOWELL, RA
    FITT, G
    SYNGENIOTIS, A
    SALING, M
    BERKOVIC, SF
    ANNALS OF NEUROLOGY, 1994, 36 (03) : 511 - 511
  • [29] An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement
    Robertson, SP
    Dickens, R
    Savarirayan, R
    Rogers, JG
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 83 (01): : 17 - 22
  • [30] Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome
    Williams, Abhilasha
    Chandrashekar, Laxmisha
    Srivastava, Vivi M.
    Thomas, Meera
    Horo, Saban
    George, Renu
    INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY, 2017, 60 (03) : 424 - 426
12345