The perinatal phenotype of Troyer syndrome: Case report and literature review

被引：0
|
作者：
Bryson, Lisa [1 ]
Anderson, Laurie [2 ]
Pagan, Judith [3 ]
Hamzollari, Rossella [4 ]
Hamilton, Mark J. [1 ]
机构：
[1] Queen Elizabeth Univ Hosp, West Scotland Clin Genet Serv, Glasgow G51 4TF, Lanark, Scotland
[2] Queen Elizabeth Univ Hosp, Fetal Med Unit, Glasgow, Lanark, Scotland
[3] Western Gen Hosp, South East Scotland Clin Genet, Edinburgh, Midlothian, Scotland
[4] Drumchapel Hlth Ctr, Glasgow City Hlth & Social Care Partnership Child, Glasgow, Lanark, Scotland
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022年 / 188卷 / 12期
关键词：
SPG20; MUTATION;
D O I：
10.1002/ajmg.a.62970
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：3558 / 3562
页数：5
相关论文
共 50 条
  • [1] Nelson syndrome and perinatal challenges: A case report and systematic review of the literature
    Jones, Kate
    Reis, Ines
    Levy, Miles J.
    Potdar, Neelam
    [J]. INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, 2023, 163 (01) : 89 - 95
  • [2] MEDULLOBLASTOMA IN A CHILD WITH TROYER SYNDROME: A CASE REPORT
    Chen, Tsulee
    Rush, Sarah
    [J]. NEURO-ONCOLOGY, 2014, 16 : 77 - 77
  • [3] A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review
    Ullah, Irfan
    Rauf, Shahzad
    Ali, Sajjad
    Khan, Kiran Shafiq
    Zahid, Tayyaba
    Malik, Jahanzeb
    Afridi, Rifayat Ullah
    Asghar, Muhammad Sohaib
    [J]. ANNALS OF MEDICINE AND SURGERY, 2022, 79
  • [4] Perinatal Catatonia: A Case Report and Literature Review
    Gonzales, Nina
    Quinn, Davin K.
    Rayburn, William
    [J]. PSYCHOSOMATICS, 2014, 55 (06) : 708 - 714
  • [5] Extending the phenotype of Shashi-Pena syndrome: a case report and review of literature
    Ho, Stephanie Ka Lun
    Cheng, Shirley Sze Wing
    Cheng, Timothy Hua Tse
    Leung, Lai-Ting
    Lam, Emily Kai Yee
    Mok, Myth Tsz Shun
    Lo, Ivan Fai Man
    Luk, Ho-Ming
    [J]. CLINICAL DYSMORPHOLOGY, 2023, 32 (03) : 139 - 146
  • [6] Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review
    Pillai, Nishitha R.
    Ahmed, Alia
    Vanyo, Todd
    Whitley, Chester B.
    [J]. GENES, 2022, 13 (08)
  • [7] Exploring the phenotype and genotype of MenkeHennekam syndrome 2: case report and literature review
    Ferreira, Susana Lemos
    Peres, Ana
    Fitas, Ana Laura
    Carvalho, Ines
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 190 - 190
  • [8] Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review
    Ho, Stephanie
    Luk, Ho-Ming
    Lo, Ivan F. M.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (03) : 984 - 990
  • [9] Perinatal Management and Outcomes of Pregnancy Following Sheehan Syndrome: A Case Report and Literature Review
    Zhan Yongchi
    Xu Tingting
    Wang Xiaodong
    [J]. 母胎医学杂志(英文), 2021, 03 (03) : 213 - 220
  • [10] Perinatal Management and Outcomes of Pregnancy Following Sheehan Syndrome: A Case Report and Literature Review
    Zhan, Yongchi
    Xu, Tingting
    Wang, Xiaodong
    [J]. MATERNAL-FETAL MEDICINE, 2021, 3 (03) : 213 - 220
12345