A CASE OF MOWAT-WILSON SYNDROME & SPECIFIC ANTIBODY DEFICIENCY

被引:0
|
作者
Colon-Leyva, M. [1 ]
Farooq, S. [1 ]
Huntwork, M. [1 ]
机构
[1] Tulane Univ, Sch Med, 1430 Tulane Ave, New Orleans, LA 70112 USA
关键词
D O I
10.1136/jim-2022-SRMC.422
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
419
引用
收藏
页码:656 / 656
页数:1
相关论文
共 50 条
  • [31] Epilepsy in Mowat-Wilson syndrome: Is it a matter of GABA?
    Cordelli, Duccio M.
    Pellicciari, Alessandro
    Kiriazopulos, Demetrio
    Franzoni, Emilio
    Garavelli, Livia
    EPILEPSIA, 2013, 54 (07) : 1331 - 1332
  • [32] RENAL AGENESIA AND MOWAT-WILSON SYNDROME: A CASE REPORT FROM DENMARK
    Baekgaard, N. K.
    Steensbjerre, M. R.
    Helweg, T. T.
    ACTA PAEDIATRICA, 2010, 99 : 61 - 61
  • [33] Identification of the DNA methylation signature of Mowat-Wilson syndrome
    Caraffi, Stefano Giuseppe
    van der Laan, Liselot
    Rooney, Kathleen
    Trajkova, Slavica
    Zuntini, Roberta
    Relator, Raissa
    Haghshenas, Sadegheh
    Levy, Michael A.
    Baldo, Chiara
    Mandrile, Giorgia
    Lauzon, Carolyn
    Cordelli, Duccio Maria
    Ivanovski, Ivan
    Fetta, Anna
    Sukarova, Elena
    Brusco, Alfredo
    Pavinato, Lisa
    Pullano, Verdiana
    Zollino, Marcella
    Mcconkey, Haley
    Tartaglia, Marco
    Ferrero, Giovanni Battista
    Sadikovic, Bekim
    Garavelli, Livia
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (6) : 619 - 629
  • [34] Psychopharmacological Management of Problem Behaviors in Mowat-Wilson Syndrome
    Besterman, Aaron D.
    Hendren, Robert L.
    JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY, 2015, 25 (08) : 656 - 657
  • [35] Mowat-Wilson syndrome: the first two Malaysian cases
    Balasubramaniam, S.
    Keng, W. T.
    Ngu, L. H.
    Goossens, M. J.
    Giurgea, I
    SINGAPORE MEDICAL JOURNAL, 2010, 51 (03) : E54 - E57
  • [36] Clinical utility gene card for: Mowat-Wilson syndrome
    Zollino, Marcella
    Garavelli, Livia
    Rauch, Anita
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (08) : 932 - 4
  • [37] Hirschsprung's disease in children with Mowat-Wilson syndrome
    Coyle, David
    Puri, Prem
    PEDIATRIC SURGERY INTERNATIONAL, 2015, 31 (08) : 711 - 717
  • [38] Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype
    Cordelli, Duccio Maria
    Garavelli, Livia
    Savasta, Salvatore
    Guerra, Azzurra
    Pellicciari, Alessandro
    Giordano, Lucio
    Bonetti, Silvia
    Cecconi, Ilaria
    Wischmeijer, Anita
    Seri, Marco
    Rosato, Simonetta
    Gelmini, Chiara
    Della Giustina, Elvio
    Ferrari, Anna Rita
    Zanotta, Nicoletta
    Epifanio, Roberta
    Grioni, Daniele
    Malbora, Baris
    Mammi, Isabella
    Mari, Francesca
    Buoni, Sabrina
    Mostardini, Rosa
    Grosso, Salvatore
    Pantaleoni, Chiara
    Doz, Morena
    Luisa Poch-Olive, Maria
    Rivieri, Francesca
    Sorge, Giovanni
    Simonte, Graziella
    Licata, Francesca
    Tarani, Luigi
    Terazzi, Emanuela
    Mazzanti, Laura
    Mainardi, Paola Cerruti
    Boni, Antonella
    Faravelli, Francesca
    Grasso, Marina
    Bianchi, Paolo
    Zollino, Marcella
    Franzoni, Emilio
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (02) : 273 - 284
  • [39] Clinical features and management issues in Mowat-Wilson syndrome
    Adam, Margaret P.
    Schelley, Susan
    Gallagher, Renata
    Brady, April N.
    Barr, Kimberly
    Blumberg, Bruce
    Shieh, Joseph T. C.
    Graham, John
    Slavotinek, Anne
    Martin, Madelena
    Keppler-Noreuil, Kim
    Storm, Andrea L.
    Hudgins, Louanne
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) : 2730 - 2741
  • [40] Mowat-Wilson syndrome: clinical and molecular report of the first case in mainland China
    Jiang, Qian
    Zhang, Tao
    Wang, Shuo
    Xiao, Ping
    Zhang, Zhen
    Ma, Yinan
    Cheng, Wei
    Su, Lin
    Pan, Hong
    Li, Qi
    Li, Long
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2016, 9 (02): : 1195 - +