Llwytho...
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the “molar tooth sign” on brain MRI. Other universal features include hypotonia with later...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Transl Sci Rare Dis |
|---|---|
| Prif Awdur: | |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
IOS Press
2019
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6864416/ https://ncbi.nlm.nih.gov/pubmed/31763177 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/TRD-190041 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|