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Ehlers-Danlos syndrome 6B

Known as: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE, BRITTLE CORNEA SYNDROME 1, CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY 
National Institutes of Health

Related topics

Related topics

18 relations
Autosomal recessive inheritanceCicatrixDentinogenesis ImperfectaEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1

Broader (2)

Eye AbnormalitiesSkin Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Use of an onlay corneal lamellar graft for brittle cornea syndrome
Brittle cornea syndrome (BCS1 OMIM #229200, BCS2 #614170) is a rare autosomal recessive condition characterised by diffuse… 
2013
2013
Vittaforma corneae keratitis in southern India: role of a novel duplex PCR.
Microsporidia are obligate intracellular parasites that infect eukaryotic cells and have emerged as major opportunistic human… 
2012
2012
Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation
Recessive mutations in zinc finger protein 469 (ZNF469) cause the brittle cornea syndrome (Mendelian Inheritance in Man #229200… 
Review
2010
Review
2010
The genetics of corneal dystrophies
Purpose To provide an overview of progress in understanding of the genetics of corneal dystrophies. 
Review
2005
Review
2005
Antimicrosporidial activity of (fluoro)quinolones in vitro and in vivo.
Microsporidia are a cause of emerging and opportunistic infections in humans and animals. Although two drugs are currently being… 
2002
2002
Phototherapeutische Kera-tektomie bei rezidivierender Erosio corneae (e-PTK) Bericht über 116 konsekutive Eingriffe
ZusammenfassungHintergrund und Ziele. Patienten mit rezidivierender Erosio corneae können wegen zum Teil exzessiver Schmerzen… 
2001
2001
Speciation of human microsporidia by polymerase chain reaction single-strand conformation polymorphism.
We describe the application of single-strand conformation polymorphism (SSCP) analysis to the speciation of human microsporidia… 
1999
1999
Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report.
1988
1988
Hemolytic anemia and multiorgan failure associated with localized cutaneous lesion.
Review
1985
Review
1985
Brittle fingernails.
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