Search

Your search keyword '"Axenfeld–Rieger syndrome"' showing total 16 results

Search Constraints

Start Over You searched for: Descriptor "Axenfeld–Rieger syndrome" Remove constraint Descriptor: "Axenfeld–Rieger syndrome" Publisher springer nature Remove constraint Publisher: springer nature
16 results on '"Axenfeld–Rieger syndrome"'

Search Results

1. Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.

2. The clinical outcomes of keratoplasty in irreversible corneal decompensation secondary to Axenfeld–Rieger syndrome.

Catalog

Books, media, physical & digital resources

3. A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.

4. Axenfeld–Rieger Syndrome: Rare Case Presentation and Overview.

5. Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome.

6. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

7. Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.

8. PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

9. Glaukome bei primären Irisveränderungen.

10. Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

11. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

12. Molecular and developmental mechanisms of anterior segment dysgenesis.

13. Morphologie, Familienanamnese und Diagnosezeitpunkt bei 26 Patienten mit Axenfeld-Rieger-Syndrom und Glaukom oder okulärer Hypertension.

14. Functional analysis of three genetic disorder related PITX2 mutants.

15. Dysmyelination of the Cerebral White matter with Microdeletion at 6p25.