FAQ

Ehlers-Danlos syndrome 6B

Known as: Dysgenesis Mesodermalis Corneae et Sclerae, Brittle cornea syndrome 1, Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility 
 

Topic mentions per year

Topic mentions per year

1988-2016
02419882016

Related topics

Related topics

18 relations
Autosomal recessive inheritanceCicatrixDentinogenesis ImperfectaEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
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Broader (2)

Eye AbnormalitiesSkin Abnormalities

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Ehlers-Danlos syndrome 6B
hearing impairment
Cicatrix
Autosomal recessive inheritance
Scoliosis, unspecified
Myopia

Papers overview

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2012
2012
Barnacle Balanus amphitrite adheres by a stepwise cementing process.
Barnacles adhere permanently to surfaces by secreting and curing a thin interfacial adhesive underwater. Here, we show that the… (More)
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2012
2012
A novel mutation in PRDM5 in brittle cornea syndrome.
To the Editor : Brittle cornea syndrome (BCS) (MIM229200) is an autosomal recessive disorder characterized by abnormally fragile… (More)
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2012
2012
Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.
Brittle cornea syndrome (BCS) is a genetically heterogeneous disorder characterized by extreme corneal fragility and thinning… (More)
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2010
2010
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
PURPOSE To investigate the diverse clinical manifestations, identify the causative mutation and explain the association with red… (More)
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2008
2008
Identification of regulatory pathways controlling gene expression of stress-responsive mitochondrial proteins in Arabidopsis.
In this study we analyzed transcript abundance and promoters of genes encoding mitochondrial proteins to identify signaling… (More)
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2008
2008
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing… (More)
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2008
2008
Romanian WordNet: Current State, New Applications and Prospects
The development of the Romanian WordNet began in 2001 within the framework of the European project BalkaNet which aimed at… (More)
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2003
2003
Mitochondrial protein import: recognition of internal import signals of BCS1 by the TOM complex.
BCS1, a component of the inner membrane of mitochondria, belongs to the group of proteins with internal, noncleavable import… (More)
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1992
1992
BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae.
Respiratory deficient pet mutants of Saccharomyces cerevisiae assigned to complementation group G2 define a new gene, named BCS1… (More)
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1990
1990
Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair…
We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited… (More)
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