Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect

被引：0
|
作者：
Lanlan Meng
Chaofeng Tu
Guangxiu Lu
Ge Lin
Yueqiu Tan
机构：
[1] Central South University,Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine
[2] Reproductive and Genetic Hospital of CITIC-Xiangya,undefined
来源：
Science China Life Sciences | 2019年 / 62卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：144 / 147
页数：3
相关论文
共 50 条
  • [41] MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE-I/III IN SIBS
    MEINECKE, P
    PASSARGE, E
    JOURNAL OF MEDICAL GENETICS, 1991, 28 (11) : 795 - 800
  • [42] Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
    Neha Sirohi
    Angela L. Duker
    Michael B. Bober
    Magee L. DeFelice
    Journal of Clinical Immunology, 2023, 43 (5) : 895 - 897
  • [43] Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
    Sirohi, Neha
    Duker, Angela L.
    Bober, Michael B.
    DeFelice, Magee L.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (05) : 895 - 897
  • [44] MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE-II - REPORT OF A CASE WITH CHARACTERISTIC SKELETAL FEATURES
    HERMAN, TE
    MENDELSOHN, NJ
    DOWTON, SB
    MCALISTER, WH
    PEDIATRIC RADIOLOGY, 1991, 21 (08) : 602 - 604
  • [45] Fracture Healing of an Osteodysplastic Femur in a Microcephalic Osteodysplastic Primordial Dwarfism II (MOPD II) Patient: A Case Report
    Rigter, Lisanne Sara
    El Moumni, Mostafa
    ten Duis, Henk Jan
    Wendt, Klaus Wilhelm
    EUROPEAN JOURNAL OF PEDIATRIC SURGERY, 2013, 23 (04) : 327 - 329
  • [46] Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III
    Gordana Juric-Sekhar
    Raj P. Kapur
    Ian A. Glass
    Mitzi L. Murray
    Shawn E. Parnell
    Robert F. Hevner
    Acta Neuropathologica, 2011, 121 : 545 - 554
  • [47] Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review (vol 15, pg 61, 2017)
    Bober, Michael B.
    Jackson, Andrew P.
    CURRENT OSTEOPOROSIS REPORTS, 2017, 15 (04): : 399 - 399
  • [48] Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome
    Dieks, Jana-Katharina
    Baumer, Alessandra
    Wilichowski, Ekkehard
    Rauch, Anita
    Sigler, Matthias
    EUROPEAN JOURNAL OF PEDIATRICS, 2014, 173 (09) : 1253 - 1256
  • [49] MICROCEPHALIC OSTEODYSPLASTIC DWARFISM (TYPE-II-LIKE) IN SIBLINGS
    VERLOES, A
    LAMBRECHTS, L
    SENTERRE, J
    LAMBOTTE, C
    CLINICAL GENETICS, 1987, 32 (02) : 88 - 94
  • [50] Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III
    Juric-Sekhar, Gordana
    Kapur, Raj P.
    Glass, Ian A.
    Murray, Mitzi L.
    Parnell, Shawn E.
    Hevner, Robert F.
    ACTA NEUROPATHOLOGICA, 2011, 121 (04) : 545 - 554
12345