X-Linked congenital familial hypotonia

被引:0
|
作者
Morales-Garofalo, L. [1 ]
Moreno-Igoa, M. [1 ]
Artigas-Lopez, M. [1 ]
Bengoa-Alonso, A. [1 ]
Sierra-Colomina, G. [2 ]
Ruiz de Sabando, A. [1 ]
Ramos-Arroyo, M. [1 ]
机构
[1] Complejo Hosp Navarra, Genet Dept, Pamplona, Spain
[2] Complejo Hosp Navarra, Neonatal Unit, Pamplona, Spain
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
E-P10.09
引用
收藏
页码:1865 / 1866
页数:2
相关论文
共 50 条
  • [31] Familial membranous nephropathy: An X-linked genetic susceptibility?
    Bockenhauer, Detlef
    Debiec, Hanna
    Sebire, Neil
    Barratt, Martin
    Warwicker, Paul
    Ronco, Pierre
    Kleta, Robert
    NEPHRON CLINICAL PRACTICE, 2008, 108 (01): : C10 - C15
  • [32] Hearing impairment in familial X-linked hypophosphatemic rickets
    Fishman, G
    Miller-Hansen, D
    Jacobsen, C
    Singhal, VK
    Alon, US
    EUROPEAN JOURNAL OF PEDIATRICS, 2004, 163 (10) : 622 - 623
  • [33] ENDOCRINE STUDIES IN X-LINKED FAMILIAL PRECOCIOUS PUBERTY
    VASQUEZ, SB
    FRIEDMAN, CI
    KIM, M
    SOTOS, JF
    PEDIATRIC RESEARCH, 1978, 12 (04) : 518 - 518
  • [34] MAPPING STUDIES OF AN X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY
    SHASTRY, BS
    TRESE, MT
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1993, 193 (02) : 599 - 603
  • [35] Hearing impairment in familial X-linked hypophosphatemic rickets
    Gadi Fishman
    Denise Miller-Hansen
    Cynthia Jacobsen
    Virender K. Singhal
    Uri S. Alon
    European Journal of Pediatrics, 2004, 163 : 622 - 623
  • [36] FAMILIAL CONGENITAL DIAPHRAGMATIC DEFECT AND ASSOCIATED MIDLINE ANOMALIES - FURTHER EVIDENCE FOR AN X-LINKED MIDLINE GENE
    CARMI, R
    MEIZNER, I
    KATZ, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (03): : 313 - 315
  • [37] ABSENCE OF MOSAICISM IN LYMPHOCYTE IN X-LINKED CONGENITAL HYPERURICOSURIA
    DANCIS, J
    BERMAN, PH
    JANSEN, V
    BALIS, ME
    LIFE SCIENCES PART 1 PHYSIOLOGY AND PHARMACOLOGY AND PART 2 BIOCHEMISTRY GENERAL AND MOLECULAR BIOLOGY, 1968, 7 (12P2): : 587 - &
  • [38] Severe X-linked congenital myopathy:: a new phenotype?
    Kirschner, J
    Finkel, RS
    Towfighi, J
    Bönnemann, CG
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 628 - 628
  • [39] Congenital X-Linked Retinoschisis: An Updated Clinical Review
    Rao, Prethy
    Dedania, Vaidehi S.
    Drenser, Kimberly A.
    ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY, 2018, 7 (03): : 169 - 175
  • [40] X-linked congenital ataxia: A clinical and genetic study
    Bertini, E
    des Portes, V
    Zanni, G
    Santorelli, F
    Dionisi-Vici, C
    Vicari, S
    Fariello, G
    Chelly, J
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (01): : 53 - 56