Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis

BACKGROUND: Short‐rib thoracic dysplasia (SRTD) and Joubert syndrome (JS) are rare genetic ciliopathies, and individuals with either syndrome can manifest cerebellar malformation and variable developmental delays. However, neither of these conditions is easily diagnosed during pregnancy due to a lim...

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Detalles Bibliográficos
Autores principales: Zhao, Qianying, Xu, Bocheng, Xiang, Qinqin, Tan, Yu, Xie, Hanbing, Gao, Qianqian, Wen, Lingyi, Wang, He, Yang, Mei, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009908/
https://www.ncbi.nlm.nih.gov/pubmed/36538006
http://dx.doi.org/10.1002/mgg3.2124

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