Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Rubinstein–Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CREBBP and the homologous EP300 genes. In this study, we established a genetic diagnostic p...

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Detalles Bibliográficos
Autores principales: Lee, Yu-Rong, Lin, Yu-Chen, Chang, Yi-Han, Huang, Hsin-Yu, Hong, Yi-Kai, Aala, Wilson Jr F., Tu, Wei-Ting, Tsai, Meng-Che, Chou, Yen-Yin, Hsu, Chao-Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024331/
https://www.ncbi.nlm.nih.gov/pubmed/35464843
http://dx.doi.org/10.3389/fgene.2022.848879

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