Family case of Potocki-Lupski syndrome

被引:0
|
作者
L. N. Kolbasin
T. A. Dubrovskaya
G. B. Salnikova
E. N. Solovieva
M. Yu. Donnikov
R. A. Illarionov
A. S. Glotov
L. V. Kovalenko
L. D. Belotserkovtseva
机构
[1] Medical Genetic Counseling Service,Budgetary Institution of KHMAO
[2] Budgetary Institution of KHMAO-Yugra “Kondinsky Regional Hospital”,Yugra Surgut Regional Clinical Center for Maternity and Childhood Protection
[3] Budgetary Institution of Highest Education of KHMAO-Yugra “Surgut State University”,undefined
[4] D.O. Ott Research Institute of Obstetrics,undefined
[5] Gynaecology,undefined
[6] and Reproductology,undefined
来源
关键词
Potocki-Lupski syndrome (PTLS); Family case study; 17p11.2 microduplication;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] Family case of Potocki-Lupski syndrome
    Kolbasin, L. N.
    Dubrovskaya, T. A.
    Salnikova, G. B.
    Solovieva, E. N.
    Donnikov, M. Yu.
    Illarionov, R. A.
    Glotov, A. S.
    Kovalenko, L. V.
    Belotserkovtseva, L. D.
    [J]. MOLECULAR CYTOGENETICS, 2024, 17 (01)
  • [2] Anesthesia in Potocki-Lupski syndrome
    Fernandez Urbon, A.
    Acosta Flores, V.
    Revilla Calavia, A.
    [J]. REVISTA ESPANOLA DE ANESTESIOLOGIA Y REANIMACION, 2016, 63 (09): : 548 - 549
  • [3] Case Report: Potocki-Lupski Syndrome in Five Siblings
    Grama, Alina
    Sirbe, Claudia
    Miclea, Diana
    Cainap, Simona Sorana
    Huniadi, Delia
    Bulata, Bogdan
    Pop, Tudor Lucian
    [J]. FRONTIERS IN PEDIATRICS, 2021, 9
  • [4] Potocki-Lupski Syndrome in Ethiopian Child: A Case Report
    Deginet, Endayen
    Abdissa, Deme
    Hailu, Tadele
    [J]. PEDIATRIC HEALTH MEDICINE AND THERAPEUTICS, 2024, 15 : 129 - 131
  • [5] A case of Potocki-Lupski syndrome with Gilles de la Tourette syndrome
    Chillag, K. L.
    Chillag, E. M.
    [J]. MOVEMENT DISORDERS, 2014, 29 : S396 - S397
  • [6] Potocki-Lupski syndrome in conjunction with bilateral clubfoot
    Dhanaraj, Dinesh
    Chu, Alice
    Pappas, John G.
    Moran, Ellen
    Lehman, Wallace B.
    [J]. JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B, 2015, 24 (04): : 373 - 376
  • [7] Profiling the behavioural phenotype of Potocki-Lupski syndrome
    Bissell, S.
    Wilde, L.
    Oliver, C.
    [J]. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2016, 60 (7-8) : 638 - 638
  • [8] Potocki-Lupski syndrome with teratologic dislocation of the hip: a case report
    Kuo, Chien-Chung
    Chang, Chien-Chun
    Hsu, Horng-Chaung
    Lu, Tung-Wu
    Tsai, Nien-Ying
    [J]. JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B, 2013, 22 (01): : 42 - 44
  • [9] Potocki-Lupski syndrome mimicking a connective tissue disorder
    Martin, Judy
    Knight, Samantha J. L.
    Sharp, Andrew J.
    Eichler, Evan E.
    Hurst, Jane
    Kini, Usha
    [J]. CLINICAL DYSMORPHOLOGY, 2008, 17 (03) : 211 - 213