Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review (vol 15, pg 61, 2017)

被引：0
|
作者：
Bober, Michael B. [1 ,2 ]
Jackson, Andrew P. [3 ]
机构：
[1] Thomas Jefferson Univ, Stanley Kimmel Med Coll, Philadelphia, PA 19107 USA
[2] Alfred I DuPont Hosp Children, 1600 Rockland Rd, Wilmington, DE 19803 USA
[3] Univ Edinburgh, MRC Human Genet Unit, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland
来源：
CURRENT OSTEOPOROSIS REPORTS | 2017年 / 15卷 / 04期
关键词：
D O I：
10.1007/s11914-017-0389-5
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：399 / 399
页数：1
相关论文
共 50 条
  • [41] Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type:: Report of four cases and review of the literature
    Sigaudy, S
    Toutain, A
    Moncla, A
    Fredouille, C
    Bourlière, B
    Ayme, S
    Philip, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 80 (01): : 16 - 24
  • [42] Screening for Cerebrovascular Disease in Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): An Evidence-Based Proposal
    Perry, Luke D.
    Robertson, Fergus
    Ganesan, Vijeya
    PEDIATRIC NEUROLOGY, 2013, 48 (04) : 294 - 298
  • [43] An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
    Bhutia, Euden
    Verma, Arushi
    Gupta, Amit Kumar
    Maria, Arti
    JOURNAL OF CLINICAL NEONATOLOGY, 2014, 3 (01) : 53 - 54
  • [44] 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
  • [45] Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome
    Hagiwara, Hidetoshi
    Matsumoto, Hiroshi
    Uematsu, Kenji
    Zaha, Kiyotaka
    Sekinaka, Yujin
    Miyake, Noriko
    Matsumoto, Naomichi
    Nonoyama, Shigeaki
    BRAIN & DEVELOPMENT, 2021, 43 (02): : 337 - 342
  • [46] Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect
    Lanlan Meng
    Chaofeng Tu
    Guangxiu Lu
    Ge Lin
    Yueqiu Tan
    Science China Life Sciences, 2019, 62 : 144 - 147
  • [47] A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: A case report
    Pachajoa H.
    Ruiz-Botero F.
    Isaza C.
    Journal of Medical Case Reports, 8 (1)
  • [48] Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: morphometric analysis in a 2 years-old girl
    Dentici, M.
    Rossi-Espagnet, M.
    Pasquini, L.
    Carducci, C.
    Lucignani, M.
    Longo, D.
    Agolini, E.
    Novelli, A.
    Gonfiantini, M. V.
    Digilio, M.
    Bartuli, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 471 - 471
  • [49] Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect
    Lanlan Meng
    Chaofeng Tu
    Guangxiu Lu
    Ge Lin
    Yueqiu Tan
    Science China(Life Sciences), 2019, 62 (01) : 144 - 147
  • [50] Multiple intracranial aneurysms and moyamoya, disease associated with microcephalic osteodysplastic primordial dwarfism type II: Surgical considerations
    Waldron, James S.
    Hetts, Steven W.
    Armstrong-Wells, Jennifer
    Dowd, Christopher F.
    Fullerton, Heather J.
    Gupta, Nalin
    Lawton, Michael T.
    JOURNAL OF NEUROSURGERY-PEDIATRICS, 2009, 4 (05) : 439 - 444
12345