A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

Developmental brain malformations are rare but are increasingly reported features of BICD2-related disorders. Here, we report a 2-year old boy with microcephaly, profound delay and partial seizures. His brain MRI showed lissencephaly, hypogenesis of corpus callosum, dysplastic hipocampus and cerebel...

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Detalles Bibliográficos
Autores principales: Abdel-Salam, Ghada M. H., Girgis, Marian, Eid, Maha M., Sayed, Inas S. M., Abdel-Hamid, Mohamed S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9592554/
https://www.ncbi.nlm.nih.gov/pubmed/35896821
http://dx.doi.org/10.1038/s10038-022-01060-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9592554/
https://www.ncbi.nlm.nih.gov/pubmed/35896821
http://dx.doi.org/10.1038/s10038-022-01060-x

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