Llwytho...
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
BACKGROUND: Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular fossa, known as “molar tooth sign” associated w...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMC Med Genet |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2020
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6993522/ https://ncbi.nlm.nih.gov/pubmed/32000717 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0962-0 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|