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

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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Bibliographic Details
Main Authors: Yu-Rong Lee, Yu-Chen Lin, Yi-Han Chang, Hsin-Yu Huang, Yi-Kai Hong, Wilson Jr F. Aala, Wei-Ting Tu, Meng-Che Tsai, Yen-Yin Chou, Chao-Kai Hsu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Genetics
Subjects:
rubinstein-taybi syndrome
multiplex ligation-dependent probe amplification
whole-exome sequencing
next-generation sequencing
genetic diagnosis
novel variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.848879/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.848879/full

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