“Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation

被引：0

作者：

Wei-Liang Liu

Fang Li

Wei Chen

Lu Liu

Hai-jian Cheng

Zhi-Xu He

Rong Ai

机构：

[1] Affiliated Hospital of Guizhou Medical University,Department of Pediatrics

[2] Affiliated Hospital of Guizhou Medical University,Department of Ophthalmology

[3] Beijing Kangso Medical Laboratory Co.,undefined

[4] Ltd,undefined

来源：

BMC Pediatrics | / 23卷

关键词：

Liu-Liang-Chung syndrome; Increase of gene dosage; 2q22; Distinctive craniofacial features;

D O I：

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学科分类号：

摘要：

引用

共 6 条

[1] "Liu-Liang-Chung" syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation
Liu, Wei-Liang
Li, Fang
Chen, Wei
Liu, Lu
Cheng, Hai-jian
He, Zhi-Xu
Ai, Rong
BMC PEDIATRICS, 2023, 23 (01)
[2] Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene
Lin, Lun-Chin
Wen, Wan-Hsin
Chen, Peir-Taur
PEDIATRICS AND NEONATOLOGY, 2024, 65 (02): : 202 - 203
[3] A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene
Meral, Cihan
Malbora, Baris
Celikel, Fatih
Aydemir, Gokhan
Suleymanoglu, Selami
Zollino, Marcella
Derbent, Murat
TURKISH JOURNAL OF PEDIATRICS, 2012, 54 (05) : 523 - 527
[4] A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities
Haiming Yuan
Lina Zhang
Mengfan Chen
Junping Zhu
Zhe Meng
Liyang Liang
Molecular Cytogenetics, 8
[5] A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities
Yuan, Haiming
Zhang, Lina
Chen, Mengfan
Zhu, Junping
Meng, Zhe
Liang, Liyang
MOLECULAR CYTOGENETICS, 2015, 8
[6] Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies
Suleiman, Jehan
Riedhammer, Korbinian M.
Jicinsky, Timothy
Mundt, Melinda
Werner, Laurie
Gusic, Mirjana
Burgemeister, Anna L.
Alsaif, Hessa S.
Abdulrahim, Maha
Moghrabi, Nabil N.
Nicolas-Jilwan, Manal
AlSayed, Moeenaldeen
Bi, Weimin
Sampath, Srirangan
Alkuraya, Fowzan S.
El-Hattab, Ayman W.
HUMAN MUTATION, 2019, 40 (11) : 1985 - 1992

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