Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse–Sakati syndrome

被引:0
|
作者
MANSOOR C. ABDULLA
ANAS M. ALAZAMI
JEMSHAD ALUNGAL
JASSIM M. KOYA
MOHTHASH MUSAMBIL
机构
[1] MES Medical College,Department of Internal Medicine
[2] King Faisal Specialist Hospital and Research Center,Department of Genetics
[3] MES Medical College,Department of Radiodiagnosis
[4] MES Medical College,Medical Biotechnology Central Research Lab
来源
Journal of Genetics | 2015年 / 94卷
关键词
Woodhouse–Sakati syndrome; Indian family;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:489 / 492
页数:3
相关论文
共 50 条
  • [1] Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome
    Abdulla, Mansoor C.
    Alazami, Anas M.
    Alungal, Jemshad
    Koya, Jassim M.
    Musambil, Mohthash
    JOURNAL OF GENETICS, 2015, 94 (03) : 489 - 492
  • [2] A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
    Steindl, K.
    Alazami, A. M.
    Bhatia, K. P.
    Wuerfel, J. T.
    Petersen, D.
    Cartolari, R.
    Neri, G.
    Klein, C.
    Mongiardo, B.
    Alkuraya, F. S.
    Schneider, S. A.
    CLINICAL GENETICS, 2010, 78 (06) : 594 - 597
  • [3] C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
    Alazami, A. M.
    Schneider, S. A.
    Bonneau, D.
    Pasquier, L.
    Carecchio, M.
    Kojovic, M.
    Steindl, K.
    de Kerdanet, M.
    Nezarati, M. M.
    Bhatia, K. P.
    Degos, B.
    Goh, E.
    Alkuraya, F. S.
    CLINICAL GENETICS, 2010, 78 (06) : 585 - 590
  • [4] Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
    Hdiji, Olfa
    Turki, Emna
    Bouzidi, Nouha
    Bouchhima, Imen
    Damak, Mariem
    Bohlega, Saeed
    Mhiri, Chokri
    JOURNAL OF MOVEMENT DISORDERS, 2016, 9 (02) : 120 - 123
  • [5] Phenotypic Heterogeneity in Woodhouse-Sakati Syndrome: Two New Families With a Mutation in the C2orf37 Gene
    Ben-Omran, Tawfeg
    Ali, Rehab
    Almureikhi, Mariam
    Alameer, Seham
    Al-Saffar, Muna
    Walsh, Christopher A.
    Felie, Jillian M.
    Teebi, Ahmad
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (11) : 2647 - 2653
  • [6] Woodhouse-Sakati Syndrome: Clinical and Molecular Study on a Qatari Family with C2orf37 Gene Mutation
    Al-Khawaga, Sara
    Khalifa, Amal
    Hussain, Khalid
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 470 - 470
  • [7] Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene
    Nanda, Arti
    Pasternack, Sandra M.
    Mahmoudi, Hassnaa
    Ishorst, Nina
    Grimalt, Ramon
    Betz, Regina C.
    PEDIATRIC DERMATOLOGY, 2014, 31 (01) : 83 - 87
  • [8] A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin
    Habib, Rabia
    Basit, Sulman
    Khan, Saadullah
    Khan, Muhammad Nasim
    Ahmad, Wasim
    GENE, 2011, 490 (1-2) : 26 - 31
  • [9] Case report of a trichohepatoenteric syndrome due to heterozygous compound of novel mutations in ttc37 gen
    Polo, B.
    Zuniga, A.
    Marin, P.
    Parra, A.
    Pedrola, L.
    Cervera, J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 910 - 910
  • [10] Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2
    Wang, Zhaokun
    Wang, Xin
    Lou, Guiyu
    Qin, Litao
    Bian, Shasha
    Tang, Xia
    Zhu, Hongjie
    Wang, Shengran
    Hao, Bingtao
    Liao, Shixiu
    GENE, 2019, 700 : 65 - 69