CHARGE Syndrome

Known as: Association, CHARGE, Syndrome, Hall-Hittner, Hall-Hittner Syndrome 
A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1985-2017
05101519852017

Papers overview

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2013
2013
Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence of 1/15,000… (More)
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2013
2013
CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear… (More)
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2013
2013
CHARGE syndrome is a sporadic autosomal-dominant genetic disorder characterized by a complex array of birth defects so named for… (More)
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2013
2013
INTRODUCTION CHARGE syndrome is a multisystem disorder that, in addition to Kallmann syndrome/isolated hypogonadotrophic… (More)
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2012
2012
CHARGE syndrome is caused by mutations in the CHD7 gene. Several organ systems including the retina, cranial nerves, inner ear… (More)
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2012
2012
Otitis media is a middle ear disease common in children under three years old. Otitis media can occur in normal individuals with… (More)
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2011
2011
BACKGROUND Otologic manifestations are one of the most consistent findings of CHARGE syndrome found in more than 90%. Since… (More)
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1999
1999
The CHARGE Association is a nonrandom occurrence of congenital malformations that has been described in clinical series. Reported… (More)
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1997
1997
We report the vestibular abnormalities in 5 patients with the CHARGE association (Coloboma, Heart disease, Atresia of choanae… (More)
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1993
1993
CHARGE association is a non-random collection of congenital anomalies. The condition is becoming more widely known to medical and… (More)
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