Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review

Objective: To investigate the clinical and genetic characteristics of a Chinese boy with Verheij syndrome and review the literature. Methods: The clinical and genetic data of a Chinese boy with Verheij syndrome, who was admitted to the Department of Pediatrics, Tongji Hospital, Tongji Medical Colleg...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 8 vom: 02. Aug., Seite 592-596
1. Verfasser:	Liang, Y (VerfasserIn)
Weitere Verfasser:	Ye, J, Wei, H, Ye, F, Luo, X P
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2018
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Case Reports Journal Article Review Genes Mutation PUF60 Verheij syndrome Intracellular Signaling Peptides and Proteins RNA Splicing Factors Repressor Proteins poly-U binding splicing factor 60KDa