De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones -: art. no. e92

被引:14
作者
Delatycki, MB
Danks, A
Churchyard, A
Zhou, XP
Eng, C
机构
[1] Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Parkville, Vic 3052, Australia
[2] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
[3] Monash Med Ctr, So Hlth, Dept Neurosurg, Clayton, Vic 3168, Australia
[4] Monash Med Ctr, So Hlth, Dept Neurol, Clayton, Vic 3168, Australia
[5] Ohio State Univ, Dept Internal Med, Human Canc Genet Program, Columbus, OH 43210 USA
[6] Ohio State Univ, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA
关键词
D O I
10.1136/jmg.40.8.e92
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页数:4
相关论文
共 28 条
  • [1] LHERMITTE-DUCLOS DISEASE (GRANULE CELL HYPERTROPHY OF CEREBELLUM) PATHOLOGICAL ANALYSIS OF FIRST FAMILIAL CASES
    AMBLER, M
    POGACAR, S
    SIDMAN, R
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1969, 28 (04) : 622 - &
  • [2] BANKIER A, 2002, PICTURES STANDARD SY
  • [3] Bielschowsky M, 1930, J PSYCHOL NEUROL, V41, P50
  • [4] COWDEN SYNDROME AND LHERMITTE-DUCLOS DISEASE IN A FAMILY - A SINGLE GENETIC SYNDROME WITH PLEIOTROPY
    ENG, C
    MURDAY, V
    SEAL, S
    MOHAMMED, S
    HODGSON, SV
    CHAUDARY, MA
    FENTIMAN, IS
    PONDER, BAJ
    EELES, RA
    [J]. JOURNAL OF MEDICAL GENETICS, 1994, 31 (06) : 458 - 461
  • [5] Will the real Cowden syndrome please stand up: revised diagnostic criteria
    Eng, C
    [J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (11) : 828 - 830
  • [6] COWDEN SYNDROME
    HANSSEN, AMN
    FRYNS, JP
    [J]. JOURNAL OF MEDICAL GENETICS, 1995, 32 (02) : 117 - 119
  • [7] NECK PAIN FOLLOWING MIGRATION OF A VENTRICULOCERVICAL SHUNT
    HEITKAMP, JW
    ROSE, JE
    [J]. SURGICAL NEUROLOGY, 1983, 19 (03): : 285 - 287
  • [8] Lhermitte-Duclos disease as a component of Cowden's syndrome - Case report and review of the literature
    Koch, R
    Scholz, M
    Nelen, MR
    Schwechheimer, K
    Epplen, JT
    Harders, AG
    [J]. JOURNAL OF NEUROSURGERY, 1999, 90 (04) : 776 - 779
  • [9] Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
    Liaw, D
    Marsh, DJ
    Li, J
    Dahia, PLM
    Wang, SI
    Zheng, ZM
    Bose, S
    Call, KM
    Tsou, HC
    Peacocke, M
    Eng, C
    Parsons, R
    [J]. NATURE GENETICS, 1997, 16 (01) : 64 - 67
  • [10] RECURRENT LHERMITTE-DUCLOS DISEASE IN A CHILD - CASE-REPORT
    MARANO, SR
    JOHNSON, PC
    SPETZLER, RF
    [J]. JOURNAL OF NEUROSURGERY, 1988, 69 (04) : 599 - 603