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
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27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：
E-P10.09
引用
收藏
页码：1865 / 1866
页数：2
相关论文
共 50 条
  • [21] Are X-linked congenital stationary niget blindness and x-linked Retinitis pigmentosa genetically allelic?
    Bergen, AAB
    tenBrink, J
    Riemslag, F
    vanSoest, S
    Schuurman, E
    Meire, F
    Tijmes, N
    deJong, PTVM
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1996, 37 (03) : 4579 - 4579
  • [22] X-LINKED CONGENITAL MUSCULAR-DYSTROPHY
    TOLBY, BE
    DAGOSTINO, AN
    ISOM, JB
    DILIBERTI, JH
    PEDIATRIC RESEARCH, 1979, 13 (04) : 487 - 487
  • [23] Congenital X-linked Stapes Gusher Syndrome
    El Beltagi, A. H.
    Elsherbiny, M. M.
    El-Nil, H.
    NEURORADIOLOGY JOURNAL, 2012, 25 (04): : 486 - 488
  • [24] A classification system for congenital X-linked retinoaschisis
    Trese, MT
    Drenser, KA
    Prenner, J
    Sieving, P
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U162 - U162
  • [25] Congenital x-linked retinoschisis classification system
    Prenner, Jonathan L.
    Capone, Antonio, Jr.
    Ciaccia, Stefano
    Takada, Yuichiro
    Sieving, Paul A.
    Trese, Michael T.
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2006, 26 (07): : S61 - S64
  • [26] X-LINKED CONGENITAL ADDISONS-DISEASE
    WAKEFIELD, MA
    BROWN, RS
    ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (01) : 73 - 74
  • [27] POSSIBLE X-LINKED CONGENITAL HEART DISEASE
    MONTELEONE, PL
    FAGAN, LF
    CIRCULATION, 1969, 39 (05) : 611 - +
  • [28] Skin cancer in congenital X-linked agammaglobulinaemia
    Sa, Ana
    Palha, Vanessa
    Condez, Elisa
    Oliveira, Narciso
    BMJ CASE REPORTS, 2021, 14 (02)
  • [29] X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
    MIYAKE, Y
    ARCHIVES OF OPHTHALMOLOGY, 1989, 107 (05) : 635 - 635
  • [30] Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease
    Marsh, Rebecca A.
    Filipovich, Alexandra H.
    YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I, 2011, 1238 : 106 - 121
12345