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Hypochondroplasia (disorder)

Known as: HCH, HYPOCHONDROPLASIA, Hypochondrodysplasia 
An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature… 
National Institutes of Health

Related topics

Related topics

10 relations
Achondrogenesis type 2Autosomal dominant inheritanceBrachydactylyHypochondrogenesis

Broader (4)

Bone and BonesDwarfismLimb Deformities, CongenitalLordosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Organochlorine compounds and polycyclic aromatic hydrocarbons in surface sediment from Baiyangdian Lake, North China: concentrations, sources profiles and potential risk.
Highly Cited
2009
Highly Cited
2009
Levels and mass burden of DDTs in sediments from fishing harbors: the importance of DDT-containing antifouling paint to the coastal environment of China.
DDT remains an important type of persistent organic pollutant (POP) in the environment of China. One of the current applications… 
Highly Cited
2003
Highly Cited
2003
Determination of organochlorine pesticides in agricultural soil with special reference to γ-HCH degradation by Pseudomonas strains
Highly Cited
2000
Highly Cited
2000
Effects of xenoestrogen treatment on zona radiata protein and vitellogenin expression in Atlantic salmon (Salmo salar).
Highly Cited
1996
Highly Cited
1996
Chondrodysplasia and neurological abnormalities in ATF-2-deficient mice
ACTIVATING transcription factor-2 (ATF-2) is a basic region leucine zipper protein whose DNA target sequence is the widely… 
Review
1996
Review
1996
Clinical and genetic heterogeneity of hypochondroplasia.
Hypochondroplasia (HCH) is an autosomal dominant condition characterised by short stature, micromelia, and lumbar lordosis. In a… 
Highly Cited
1995
Highly Cited
1995
A common FGFR3 gene mutation in hypochondroplasia.
Hypochondroplasia is a genetic disorder of disproportionate short stature. Linkage analysis provisionally placed… 
Highly Cited
1994
Highly Cited
1994
A gene for achondroplasia–hypochondroplasia maps to chromosome 4p
Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short–limbed dwarfism and macrocephaly. Milder… 
Highly Cited
1992
Highly Cited
1992
1H, 13C, and 15N NMR assignments and global folding pattern of the RNA-binding domain of the human hnRNP C proteins.
The hnRNP C1 and C2 proteins are abundant nuclear proteins that bind avidly to heterogeneous nuclear RNAs (hnRNAs) and appear to… 
Highly Cited
1988
Highly Cited
1988
Ambient concentration and precipitation scavenging of atmospheric organic pollutants
Trace organic compounds were measured in air and rainfall at a rural site in Texas. Chlorinated hydrocarbons and phthalic acid… 
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