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Achondroplasia

Known as: Chondrodystrophia, Achondroplasia [Disease/Finding], osteosclerosis congenita 
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic… 
National Institutes of Health

Related topics

Related topics

35 relations
AchondrogenesisAchondroplasia, Severe, With Developmental Delay And Acanthosis NigricansAutosomal dominant inheritanceBrachydactyly

Narrower (7)

Achondrogenesis type 1AAchondrogenesis type 2Achondrogenesis, type IB (disorder)Dyssegmental dysplasia, Rolland-Desbuquois type

Broader (2)

DwarfismHereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.
Mutations of fibroblast growth factor receptor 3 (FGFR3) are responsible for achondroplasia (ACH) and related dwarfing conditions… 
Highly Cited
2002
Highly Cited
2002
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation
Highly Cited
1994
Highly Cited
1994
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
Achondroplasia has been mapped to 4p16.3 using 18 multigenerational families with achondroplasia and 10 short tandem repeat… 
Highly Cited
1988
Highly Cited
1988
A Textbook of Clinical Neurophysiology
description. Inevitably, in an area like tissue culture, many of the views expressed are very personalised and sometimes appear… 
Review
1988
Review
1988
The natural history of achondroplasia.
Achondroplasia is an important model for defining how to describe the natural history of a disorder, as well as how to use that… 
Review
1980
Review
1980
Spinal neurological complications of achondroplasia. Results of surgical treatment.
Spinal neurological complications caused the admission of 17 patients with achondroplasia to the UCLA affiliated hospitals… 
Highly Cited
1977
Highly Cited
1977
Neurological symptoms in achondroplastic dwarfs--surgical treatment.
Fourteen patients who had neurological symptoms associated with achondroplastic dwarfism and who had spine surgery were analyzed… 
Highly Cited
1969
Highly Cited
1969
Significance of the small lumbar spinal canal: cauda equina compression syndromes due to spondylosis. 5. Achondroplasia.
D WARFISM secondary to achondroplasia has been recognized for centuries and pictured in historical drawings and documents? 1 The… 
1966
1966
Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata.
Chondrodystrophia congenita punctata (Conradi's disease) is a multisystem defect usually seen within the first six to nine months… 
Review
1952
Review
1952
Chondrodystrophia calcificans congenita; report of a case.
The roentgenologist in the daily practice of his specialty expects to encounter manifestations of disease that are familiar and… 
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