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Achondrogenesis type 2

Known as: Langer-Saldino achondrogenesis, Achondrogenesis, Langer-Saldino type, Achondrogenesis, Type II 
National Institutes of Health

Related topics

Related topics

8 relations

Broader (1)

Achondroplasia
Autosomal dominant inheritanceCleft PalateHydrops FetalisHypochondrogenesis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Sulfane sulfur deficiency in malignant cells, increasing the inhibiting action of acetone cyanohydrin in tumor growth.
PURPOSE To demonstrate the irreversible poisoning action of the acetone cyanohydrin (AC) in malignant cells. METHODS Thirty… 
2011
2011
DEEP LEVELS IN SIC
Silicon carbide (SiC) has been discussed as a promising material for high power bipolar devices for almost twenty years. Advances… 
2010
2010
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1… 
2007
2007
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father
Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1. We report on… 
Review
2006
Review
2006
Regulation of scapula development
The scapula is a component of the shoulder girdle. Its structure has changed greatly during evolution. For example, in humans it… 
1992
1992
Osteoblastic and chondroblastic response to a variety of locally administered immunomodulators in mice.
Administration into mouse shank muscles of various immunomodulators which directly or indirectly activate lymphocytes (BCG, Con A… 
1992
1992
Collagen type II in Langer‐Saldino achondrogenesis: absence of major abnormalities in a less severe case
Collagen extracted either from cartilage or synthesized in vitro was analyzed to identify possible molecular defects in the… 
1990
1990
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis.
Knowledge of the structure of cartilage vascular canals is important for a more thorough understanding of the development of… 
1989
1989
The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis
SummaryStructural analysis of hyaline cartilage extracellular matrix components from the ribs and knee joint of a stillborn… 
1988
1988
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies.
A 32-wk-gestation female with type II achondrogenesis-hypochondrogenesis has been studied. The clinical features were typical… 
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