Achondrogenesis

Known as: Achondrogenesis Syndrome 
A rare group of disorders characterized by defective development of bones and cartilage.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1969-2017
051019692017

Papers overview

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2000
2000
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… (More)
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2000
2000
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of… (More)
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1996
1996
Achondrogenesis type IB (ACG-IB) is a recessively inherited chondrodysplasia characterized by extremely poor skeletal development… (More)
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1996
1996
Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate… (More)
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1995
1995
We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer-Saldino), and who also… (More)
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1995
1995
We present the first transvaginal first-trimester diagnosis of achondrogenesis type I confirmed by radiographic and histologic… (More)
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1995
1995
An autosomal dominant mutation in the COL2A1 gene was identified in a fetus with achondrogenesis type II. A transition of G2853… (More)
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1994
1994
Achondrogenesis type I is a perinatally lethal, short-limb chondrodysplasia. Two types, IA and IB, have been distinguished by… (More)
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1988
1988
A 32-wk-gestation female with type II achondrogenesis-hypochondrogenesis has been studied. The clinical features were typical… (More)
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1988
1988
We have extended the study of a mild case of type II achondrogenesis-hypochondrogenesis to include biochemical analyses of… (More)
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