Llwytho...
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia
Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation a...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | J Pediatr Genet |
|---|---|
| Prif Awduron: | , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Georg Thieme Verlag KG
2021
|
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8110363/ https://ncbi.nlm.nih.gov/pubmed/33996189 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1712916 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|