RARE CASE OF COFFIN-SIRIS SYNDROME CAUSED BY SOX4 MUTATION WITH NEW PHENOTYPIC FEATURES

被引：0
|
作者：
Lee, A. E. [1 ,2 ,3 ]
Friedman, J. [1 ,2 ,3 ]
Lenberg, J. [1 ,3 ]
Wigby, K. [1 ,2 ,3 ]
机构：
[1] Rady Childrens Hosp San Diego, San Diego, CA USA
[2] Univ Calif San Diego, La Jolla, CA 92093 USA
[3] Rady Childrens Inst Genom Med, San Diego, CA USA
来源：
JOURNAL OF INVESTIGATIVE MEDICINE | 2022年 / 70卷 / 01期
关键词：
D O I：
10.1136/jim-2022-WRMC.407
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
411
引用
收藏
页码：312 / 313
页数：2
相关论文
共 50 条
  • [1] Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation
    Tzeng, Michael
    du Souich, Christele
    Cheung, Helen Wing-Hong
    Boerkoel, Cornelius F.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (07) : 1808 - 1814
  • [2] A case of Coffin-Siris syndrome
    Krebs, P
    Wieacker, P
    MONATSSCHRIFT KINDERHEILKUNDE, 1998, 146 (06) : 594 - 596
  • [3] Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation
    Okamoto, Nobuhiko
    Ehara, Eiji
    Tsurusaki, Yoshinori
    Miyake, Noriko
    Matsumoto, Naomichi
    CONGENITAL ANOMALIES, 2018, 58 (03) : 105 - 107
  • [4] Coffin-Siris syndrome - case report
    Vardeva, Antonia
    Ivanov, Hristo
    Tsvetanova, Tsvetelina
    Stoyanova, Vili
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 243 - 243
  • [5] A case of Coffin-Siris syndrome [Coffin-Siris-syndrom. Fallbericht]
    Krebs P.
    Wieacker P.
    Monatsschrift Kinderheilkunde, 1998, 146 (6) : 594 - 596
  • [6] Clinical features of Coffin-Siris syndrome.
    Peters, BJ
    Pandya, A
    Vanner, L
    Kerkering, K
    Bodurtha, JN
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A338 - A338
  • [7] CLINICAL AND RADIOLOGICAL FEATURES OF COFFIN-SIRIS SYNDROME - NEW CASE-REPORT
    ZELANTE, L
    PELLEGRINO, M
    RIGANTI, A
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1988, 14 (03): : 316 - 319
  • [8] THE COFFIN-SIRIS SYNDROME - A CASE-REPORT
    UEDA, K
    SAITO, A
    NAKANO, H
    IINUMA, K
    HELVETICA PAEDIATRICA ACTA, 1980, 35 (04) : 385 - 390
  • [9] Vitiligo: A new finding in Coffin-Siris syndrome
    Tchanque-Fossuo, Catherine N.
    Dahle, Sara E.
    Isseroff, R. Rivkah
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2017, 76 (06) : AB281 - AB281
  • [10] COFFIN-SIRIS SYNDROME - 2 NEW CASES
    WEISWASSER, WH
    HALL, BD
    DELAVAN, GW
    SMITH, DW
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1973, 125 (06): : 838 - 840
12345