# Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/australian-children-living-with-rare-diseases-experiences-of-diagnosis-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | APSU Rare Diseases Impacts on Families Study group,Yvonne Zurynski,Marie Deverell,Troy Dalkeith,Sandra Johnson,John Christodoulou,Helen Leonard,Elizabeth Elliott |
| Citations | 240 |
| DOI | 10.1186/s13023-017-0622-4 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | gold |
| OA URL | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-017-0622-4 |
| OpenAlex ID | https://openalex.org/W2605691282 |
| PMID | 28399928 |
| Type | article |
| Year | 2017 |

## Paper authors

- [Elizabeth Elliott](https://scholariq.org/researchers/elizabeth-elliott/)

## Paper journal

- [Orphanet Journal of Rare Diseases](https://scholariq.org/journals/orphanet-journal-of-rare-diseases/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [BRCA gene mutations in cancer](https://scholariq.org/topics/brca-gene-mutations-in-cancer/)
- [Cystic Fibrosis Research Advances](https://scholariq.org/topics/cystic-fibrosis-research-advances/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.