Inherited Pial Arteriovenous Fistula in Capillary Malformation-Arteriovenous Malformation Family

被引：1
|
作者：
Li, Jingwei [1 ]
Yu, Jiaxing [1 ]
Zhang, Hongqi [1 ]
Li, Guilin [1 ]
机构：
[1] Capital Med Univ, Natl Ctr Neurol Disorders, China Int Neurosci Inst, Dept Neurosurg,Xuanwu Hosp, 45 Changchun St, Beijing 100053, Peoples R China
来源：
ANNALS OF NEUROLOGY | 2022年 / 91卷 / 04期
基金：
中国国家自然科学基金;
关键词：
MUTATIONS;
D O I：
10.1002/ana.26316
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：575 / 577
页数：3
相关论文
共 50 条
  • [41] EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report
    Yu, JiaDe
    Streicher, Jenna L.
    Medne, Livija
    Krantz, Ian D.
    Yan, Albert C.
    PEDIATRIC DERMATOLOGY, 2017, 34 (05) : E227 - E230
  • [42] Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
    Coccia, Emanuele
    Valeri, Lara
    Zuntini, Roberta
    Caraffi, Stefano Giuseppe
    Peluso, Francesca
    Pagliai, Luca
    Vezzani, Antonietta
    Pietrangiolillo, Zaira
    Leo, Francesco
    Melli, Nives
    Fiorini, Valentina
    Greco, Andrea
    Lepri, Francesca Romana
    Pisaneschi, Elisa
    Marozza, Annabella
    Carli, Diana
    Mussa, Alessandro
    Radio, Francesca Clementina
    Conti, Beatrice
    Iascone, Maria
    Gargano, Giancarlo
    Novelli, Antonio
    Tartaglia, Marco
    Zuffardi, Orsetta
    Bedeschi, Maria Francesca
    Garavelli, Livia
    GENES, 2023, 14 (03)
  • [43] Rare Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM): Intrafamilial phenotypic heterogeneity
    Psoni, Stavroula
    Amenta, Styliani
    Manolakos, Emmanouel
    Tsoutsou, Eirini
    Kanaka-Gantenbein, Christina
    Fryssira, Helen
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1276 - 1277
  • [44] RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
    Revencu, Nicole
    Boon, Laurence M.
    Mendola, Antonella
    Cordisco, Maria Rosa
    Dubois, Josee
    Clapuyt, Philippe
    Hammer, Frank
    Amor, David J.
    Irvine, Alan D.
    Baselga, Eulalia
    Dompmartin, Anne
    Syed, Samira
    Martin-Santiago, Ana
    Ades, Lesley
    Collins, Felicity
    Smith, Janine
    Sandaradura, Sarah
    Barrio, Victoria R.
    Burrows, Patricia E.
    Blei, Francine
    Cozzolino, Mariarosaria
    Brunetti-Pierri, Nicola
    Vicente, Asuncion
    Abramowicz, Marc
    Desir, Julie
    Vilain, Catheline
    Chung, Wendy K.
    Wilson, Ashley
    Gardiner, Carol A.
    Dwight, Yim
    Lord, David J. E.
    Fishman, Leona
    Cytrynbaum, Cheryl
    Chamlin, Sarah
    Ghali, Fred
    Gilaberte, Yolanda
    Joss, Shelagh
    Boente, Maria Del C.
    Leaute-Labreze, Christine
    Delrue, Marie-Ange
    Bayliss, Susan
    Martorell, Loreto
    Gonzalez-Ensenat, Maria-Antonia
    Mazereeuw-Hautier, Juliette
    O'Donnell, Brid
    Bessis, Didier
    Pyeritz, Reed E.
    Salhi, Aicha
    Tan, Oon T.
    Wargon, Orli
    HUMAN MUTATION, 2013, 34 (12) : 1632 - 1641
  • [45] ARTERIOVENOUS-FISTULA SIMULATING ARTERIOVENOUS MALFORMATION
    TROUT, HH
    TIEVSKY, AL
    RIETH, KG
    DRUY, EM
    GIORDANO, JM
    OTOLARYNGOLOGY-HEAD AND NECK SURGERY, 1987, 97 (03) : 322 - 325
  • [46] A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation
    Sherwani, Yousuf
    Jenkins, Samantha
    Adelanwa, Ayodele
    Burch, David Marshall
    Chaudhuri, Nita Ray
    Zinn, Zachary
    PEDIATRIC DERMATOLOGY, 2021, 38 (05) : 1305 - 1307
  • [47] Variations in RASA1 and EPHB4 in Chinese patients with capillary malformation-arteriovenous malformation
    Zeng, Qin
    Lu, Wenmin
    Ye, Ying
    Li, Ming
    Ge, Hongsong
    Cao, Qiaoyu
    He, Wei
    Zhang, Cheng
    Song, Wei
    JOURNAL OF DERMATOLOGY, 2025, 52 (02): : 377 - 382
  • [48] Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study
    Weitz, Nicole A.
    Lauren, Christine T.
    Behr, Gerald G.
    Wu, June K.
    Kandel, Jessica J.
    Meyers, Philip M.
    Sultan, Sally
    Anyane-Yeboa, Kwame
    Morel, Kimberly D.
    Garzon, Maria C.
    PEDIATRIC DERMATOLOGY, 2015, 32 (01) : 76 - 84
  • [49] Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
    Eerola, I
    Boon, LM
    Mulliken, JB
    Burrows, PE
    Dompmartin, A
    Watanabe, S
    Vanwijck, R
    Vikkula, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) : 1240 - 1249
  • [50] A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases
    Gandon, Claudine
    Bonniaud, Bertille
    Collet, Evelyne
    Dalac, Sophie
    Jeudy, Geraldine
    Vabres, Pierre
    PEDIATRIC DERMATOLOGY, 2016, 33 (05) : E337 - E341
12345