McLeod syndrome: a novel mutation in an Italian patient

被引：0
|
作者：
Cittadella, R.
De Marco, E. V.
Tartara, E. [1 ]
Piccolo, G. [1 ]
Cortese, A. [1 ]
Ricca, I. [1 ]
Terzaghi, M. [1 ]
Benna, P. [2 ]
Galimberti, C. A. [1 ]
机构：
[1] IRCCS C Mondino Natl Neurol Inst, Pavia, Italy
[2] AOU Citta Salute & Sci, Dept Neurosci & Mental Hlth, Turin, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.075C
引用
收藏
页码：397 / 397
页数：1
相关论文
共 50 条
  • [21] PHENOTYPE AND GENOTYPE OF A PATIENT WITH MCLEOD SYNDROME
    Sammler, E.
    O'Riordan, J.
    Swingler, R.
    Poole, J.
    Hormuzdi, S. G.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2009, 80 (04): : 456 - 456
  • [22] McLeod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings
    Jung, HH
    Hergersberg, M
    Kneifel, S
    Alkadhi, H
    Schiess, R
    Weigell-Weber, M
    Daniels, G
    Kollias, S
    Hess, K
    ANNALS OF NEUROLOGY, 2001, 49 (03) : 384 - 392
  • [23] Case of McLeod syndrome with a novel genetic mutation (vol 4, pg 115, 2016)
    Narumi, S.
    Natori, T.
    Miyazawa, H.
    Kato, T.
    Yonezawa, H.
    Nishino, I.
    Nakamura, M.
    Sano, A.
    Terayama, Y.
    NEUROLOGY AND CLINICAL NEUROSCIENCE, 2019, 7 (01): : 48 - 48
  • [24] McLeod Syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene
    Zeman, A
    Daniels, G
    Tilley, L
    Dunn, M
    Toplis, L
    Bullock, T
    Poole, J
    Blackwood, D
    PSYCHIATRIC GENETICS, 2005, 15 (04) : 291 - 293
  • [25] A novel mutation at XK gene responsible for a McLeod phenotype
    Wendel, S
    Fontao-Wendel, R
    Levi, JE
    Aravecchia, MG
    Bordokan, R
    David, R
    Haddad, M
    TRANSFUSION, 2004, 44 (09) : 117A - 117A
  • [26] A novel mutation in a patient with Werner's syndrome
    Nakayama, T
    Ochiai, T
    Takahashi, Y
    Ohkubo, K
    Hironaga, T
    Kokubun, S
    GERONTOLOGY, 2002, 48 (04) : 215 - 219
  • [27] Novel EED mutation in patient with Weaver syndrome
    Cooney, Erin
    Bi, Weimin
    Schlesinger, Alan E.
    Vinson, Sherry
    Potocki, Lorraine
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (02) : 541 - 545
  • [28] Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency
    Luigetti, M.
    Pizzuti, A.
    Bartoletti, S.
    Houlden, H.
    Pirro, C.
    Bottillo, I.
    Madia, F.
    Conte, A.
    Tonali, P. A.
    Sabatelli, M.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 290 (1-2) : 150 - 152
  • [29] Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient
    Diociaiuti, Andrea
    Rosati, Enrico
    Paglietti, Maria Giovanna
    Vacca, Paola
    Boldrini, Renata
    Pisaneschi, Elisa
    Castiglia, Daniele
    Novelli, Antonio
    El Hachem, May
    ACTA DERMATO-VENEREOLOGICA, 2018, 98 (08) : 803 - 804
  • [30] A novel mutation in a patient with KIDAR syndrome: tenth patient in the literature
    Altiner, Sule
    Yurtdas, Karer
    Dogulu, Neslihan
    Kose, Engin
    Eminoglu, Fatma Tuba
    Karabulut, Halil Gurhan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 238 - 238
12345