De Barsy syndrome
Sign in to saveAlso known as cutis laxa-corneal clouding-intellectual disability syndrome, autosomal recessive cutis laxa type III
human disease
In the Vinony graph
Within Vinony's link graph, De Barsy syndrome is referenced by 18 other articles, and connects out to trichothiodystrophy syndromes, enzyme and Wayback Machine.
It sits within the topics Autosomal recessive disorders, Genetic syndromes and Progeroid syndromes.
Its subject is documented across 5 Wikipedia language editions.
Research
31 papers- De Barsy Syndrome: A Case Report of a Rare Genetic Disorder.Cureus · 2023
- The De Barsy syndrome.Journal of cutaneous pathology · 2004
- Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.Ophthalmic genetics · 2023
- De Barsy syndrome: a review of the phenotype.Clinical dysmorphology · 2008
- Clinical implications of de Barsy syndrome.Paediatric anaesthesia · 2018
via PubMed
Wikidata facts
Show 2 more facts
- exact match
- www.orpha.net/ORDO/Orphanet_2962
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (2)
via Wikidata · CC0
Connections
trichothiodystrophy syndromes
Entity
enzyme
Entity
Wayback Machine
Entity
mitochondrion
Entity
digital object identifier
Entity
International Standard Serial Number
Entity
cataract
Entity
cornea
Entity
International Statistical Classification of Diseases and Related Health Problems
Entity
PubMed
Entity
biopsy
Entity
scoliosis
Entity
DL-proline
Entity
genetic disease
Entity
progeria
Entity
PubMed Central
Entity
Medical Subject Headings
Entity
DNA repair
Entity
Ehlers-Danlos syndrome
Entity
Diseases Database
Entity