Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Familial Rubinstein-Taybi syndrome (RSTS) with recurrent RSTS siblings and apparently unaffected parents is rare; such cases might result from parental somatic and/or germline mosaicism. Parental low-level (<10%) germline mosaicism in the CREBBP-associated RSTS family has not been reported. Here,...

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Detalles Bibliográficos
Autores principales: Lin, Shaobin, He, Zhiming, Huang, Linhuan, Liu, Jialiu, Lei, Ting, Wu, Jianzhu, Huang, Peizhi, Zhou, Yi, Luo, Yanmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970026/
https://www.ncbi.nlm.nih.gov/pubmed/33747050
http://dx.doi.org/10.3389/fgene.2021.640992

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970026/
https://www.ncbi.nlm.nih.gov/pubmed/33747050
http://dx.doi.org/10.3389/fgene.2021.640992

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