"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

Liu, Wei-Liang; Li, Fang; Chen, Wei; Liu, Lu; Cheng, Hai-Jian; He, Zhi-Xu; Ai, Rong.

Afiliação

Liu WL; Department of Pediatrics, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, China. liuweiliang205@aliyun.com.
Li F; Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, China.
Chen W; Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, China.
Liu L; Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, China.
Cheng HJ; Beijing Kangso Medical Laboratory Co., Ltd, Beijing, 100195, China.
He ZX; Department of Pediatrics, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, China.
Ai R; Department of Pediatrics, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, China.

BMC Pediatr ; 23(1): 480, 2023 09 21.

Article em En | MEDLINE | ID: mdl-37735378

Assuntos

Anormalidades Múltiplas; Doença de Hirschsprung; Humanos; Anormalidades Múltiplas/genética; Mutação; Doença de Hirschsprung/diagnóstico; Doença de Hirschsprung/genética; Fenótipo; Homeobox 2 de Ligação a E-box com Dedos de Zinco/genética

Palavras-chave

2q22; Distinctive craniofacial features; Increase of gene dosage; Liu-Liang-Chung syndrome; ZEB2

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doença de Hirschsprung Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google