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Geleophysic dysplasia

Known as: Geleophysic dwarfism 
National Institutes of Health

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Related topics

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Acromicric Dysplasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Optic disc swelling in acromicric and geleophysic dysplasia
Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia Genetics Department… 
2017
2017
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
2016
2016
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I
Institute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technical University of Dresden, University Center for Rare… 
2013
2013
More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia
The criteria for diagnosing and distinguishing between Weill–Marchesani syndrome (WMS) and geleophysic dysplasia (GD) are inexact… 
2013
2013
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
BACKGROUND Geleophysic dysplasia (GD) is an autosomal recessive disorder characterized by short stature, brachydactyly, stiff… 
2013
2013
Geleophysic dysplasia associated with bilateral angle closure glaucoma
In this case report, we present occurrence of bilateral angle closure glaucoma in a 9-year-old girl with geleophysic dysplasia… 
2002
2002
Perthes-like changes in geleophysic dysplasia.
Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs… 
2002
2002
Multiple trigger fingers associated with geleophysic dysplasia
Abstract. We report an infant with geleophysic dysplasia (MIM 231050) who developed multiple trigger fingers. The condition was… 
1996
1996
Acromicric dysplasia and geleophysic dysplasia: Similarities and differences
AbstractWe report on a girl with severe growth retardation, characteristic facies, short stubby hands and feet, progressive joint… 
1984
1984
Familial recurrence of geleophysic dysplasia.
We describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good-natured… 
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