Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this varia...

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Detalles Bibliográficos
Autores principales: Lenberg, Jerica L., Pretorius, Dolores H., Rupe, Eric S., Jones, Marilyn C., Ramos, Gladys A., Andreasen, Tara S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452501/
https://www.ncbi.nlm.nih.gov/pubmed/30997057
http://dx.doi.org/10.1002/ccr3.2051

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