Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

被引:5
|
作者
Plaza-Benhumea, L. [1 ]
Valdes-Miranda, J. M. [2 ]
Toral-Lopez, J. [3 ]
Perez-Cabrera, A. [2 ]
Cuevas-Covarrubias, S. [2 ]
机构
[1] Hosp Nino IMIEM, Dept Genet, Edomex, Mexico
[2] Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Fac Med, Dept Med Genet, Mexico City 04510, DF, Mexico
[3] ISSEMYM, Ctr Med Ecatepec, Dept Genet Med, Edomex, Mexico
关键词
EPIDERMOLYSIS-BULLOSA ACQUISITA; ELASTOSIS-PERFORANS-SERPIGINOSA; PENICILLAMINE; DERMATOSES; DIAGNOSIS; SKIN;
D O I
10.1111/bjd.13177
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:1581 / 1583
页数:3
相关论文
共 21 条
  • [21] Novel CACNA1C R511Q mutation, located in domain I-II linker, causes non-syndromic type-8 long QT syndrome
    Nakajima, Tadashi
    Kawabata-Iwakawa, Reika
    Tamura, Shuntaro
    Hasegawa, Hiroshi
    Kobari, Takashi
    Itoh, Hideki
    Horie, Minoru
    Nishiyama, Masahiko
    Kurabayashi, Masahiko
    Kaneko, Yoshiaki
    Ishii, Hideki
    PLOS ONE, 2022, 17 (07):