Novel Renal Phenotype of a Rare Genetic Syndrome: Pericentrin (PCNT) Gene Related Microcephalic Osteodysplastic Primordial Dwarfism Type II

被引:0
|
作者
Llanos, Maria [1 ]
Wang, Xiangling [1 ]
Herlitz, Leal C. [1 ]
Shad, Fariha [1 ]
Hijazi, Fadi A. [1 ]
Roberts, Mary-Beth [1 ]
机构
[1] Cleveland Clin, Cleveland, OH 44106 USA
来源
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
FR-PO306
引用
收藏
页码:408 / 408
页数:1
相关论文
共 50 条
  • [1] Rare Pericentrin (PCNT) gene mutation detected in a patient with microcephalic osteodysplastic primordial dwarfism in Turkey
    Oz, Ozlem
    Gonel, Ataman
    KUWAIT MEDICAL JOURNAL, 2022, 54 (04): : 517 - 520
  • [2] A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II
    Liu, Haifeng
    Tao, Na
    Wang, Yan
    Yang, Yang
    He, Xiaoli
    Zhang, Yu
    Zhou, Yuantao
    Liu, Xiaoning
    Feng, Xingxing
    Sun, Meiyuan
    Xu, Fang
    Su, Yanfang
    Li, Li
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (09):
  • [3] Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
    Willems, M.
    Genevieve, D.
    Borck, G.
    Baumann, C.
    Baujat, G.
    Bieth, E.
    Edery, P.
    Farra, C.
    Gerard, M.
    Heron, D.
    Leheup, B.
    Le Merrer, M.
    Lyonnet, S.
    Martin-Coignard, D.
    Mathieu, M.
    Thauvin-Robinet, C.
    Verloes, A.
    Colleaux, L.
    Munnich, A.
    Cormier-Daire, V.
    JOURNAL OF MEDICAL GENETICS, 2010, 47 (12) : 797 - 802
  • [4] Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
    Singh, Amit
    Garg, Mahak
    Shariq, Mohammed
    Khetarpal, Preeti
    Panigrahi, Inusha
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2025, 26 (01)
  • [5] Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II
    Nguyen, Thu Hien
    Nguyen, Ngoc-Lan
    Vu, Chi Dung
    Ngoc, Can Thi Bich
    Nguyen, Ngoc Khanh
    Nguyen, Huy Hoang
    GENES & GENOMICS, 2021, 43 (02) : 115 - 121
  • [6] Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia
    Ozel, Fatih
    Direk, Nese
    Kulali, Melike Ataseven
    Bozkaya, Ozlem Giray
    Ada, Emel
    Alptekin, Koksal
    PSYCHIATRIC GENETICS, 2019, 29 (02) : 57 - 60
  • [7] Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
    D. Hettiarachchi
    S. M. V. Subasinghe
    G. G. Anandagoda
    Hetalkumar Panchal
    P. S. Lai
    V. H. W. Dissanayake
    BMC Medical Genomics, 15
  • [8] Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II
    Thu Hien Nguyen
    Ngoc-Lan Nguyen
    Chi Dung Vu
    Can Thi Bich Ngoc
    Ngoc Khanh Nguyen
    Huy Hoang Nguyen
    Genes & Genomics, 2021, 43 : 115 - 121
  • [9] A microcephalic osteodysplastic primordial dwarfism type 2 case with a homozygous novel mutation in PCNT
    Kabayegit, Z. Manav
    Can, E.
    Yuzbasi, B. Kipcak
    Altan, M.
    Jackson, A.
    Bozkurt, G.
    Tosun, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 365 - 365
  • [10] Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
    Hettiarachchi, D.
    Subasinghe, S. M., V
    Anandagoda, G. G.
    Panchal, Hetalkumar
    Lai, P. S.
    Dissanayake, V. H. W.
    BMC MEDICAL GENOMICS, 2022, 15 (01)