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

BACKGROUND: Contiguous gene gain syndrome including entire ZEB2 may be a novel syndrome. In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of the syndrome. CASE PRESENTATION: We report a novel case with the syndrome with a nove...

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Detalles Bibliográficos
Autores principales: Liu, Wei-Liang, Li, Fang, Chen, Wei, Liu, Lu, Cheng, Hai-jian, He, Zhi-Xu, Ai, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512491/
https://www.ncbi.nlm.nih.gov/pubmed/37735378
http://dx.doi.org/10.1186/s12887-023-04314-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512491/
https://www.ncbi.nlm.nih.gov/pubmed/37735378
http://dx.doi.org/10.1186/s12887-023-04314-5

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