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Geroderma osteodysplastica

Known as: GO, Geroderma osteodysplastica hereditaria, Gerodermia osteodysplastica 
National Institutes of Health

Related topics

Related topics

12 relations
Autosomal recessive inheritanceCongenital CamptodactylyGORAB, IVS4, G-C, +5Hypoplasia of the maxilla

Broader (3)

Bone DiseasesDwarfismSkin Diseases, Genetic

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica
Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease… 
2017
2017
Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging.
2009
2009
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations
Effect of aging on decreased skin elasticity and bone mass is well known. Geroderma osteodysplastica (GO) is a very rare… 
Review
2008
Review
2008
Gerodermia Osteodysplastica/Wrinkly Skin Syndrome: Report of Three Patients and Brief Review of the Literature
Abstract:  Gerodermia osteodysplastica and wrinkly skin syndrome are rare autosomal recessive disorders. Due to the many… 
2008
2008
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
Important insights into the etiology of osteoporosis have been gained by the study of single gene disorders, including… 
2005
2005
The evolution of behaviour, and integrating it towards a complete and correct understanding of behavioural biology
Tinbergen suggested there are four major aims or questions in ethology. All of these contribute to the larger single question of… 
Review
2005
Review
2005
Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth… 
2004
2004
Geroderma osteodysplastica
SummaryThis paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The… 
1988
1988
Is geroderma osteodysplastica underdiagnosed?
A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which… 
Review
1979
Review
1979
Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review.
Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the… 
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