Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects

BACKGROUND: Cyclin‐dependent kinase 13 plays a critical role in the regulation of gene transcription. Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmental delay, which is inherited in an autosomal dominant manner. ME...

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Detalles Bibliográficos
Autores principales: Cui, Xiangrong, Wu, Xueqing, Wang, Hongwei, Zhang, Sanyuan, Wang, Wei, Jing, Xuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830809/
https://www.ncbi.nlm.nih.gov/pubmed/35034425
http://dx.doi.org/10.1002/mgg3.1863

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830809/
https://www.ncbi.nlm.nih.gov/pubmed/35034425
http://dx.doi.org/10.1002/mgg3.1863

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