Protein Information

Name short stature homeobox
Synonyms GCFX; PHOG; Pseudoautosomal homeobox containing osteogenic protein; SHOX; SHOXY; SS; Short stature homeobox containing protein; Short stature homeobox protein…

Compound Information

Name HCH
CAS 1,2,3,4,5,6-hexachlorocyclohexane

Reference List

PubMed Abstract RScore(About this table)
15214013 Thomas NS, Maloney V, Bass P, Mulik V, Wellesley D, Castle B: SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. . Am J Med Genet A. 2004 Jul 15;128A(2):179-84.

 6(0,0,0,6) Details
11030412 Grigelioniene G, Eklof O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenas L: Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. Hum Genet. 2000 Aug;107(2):145-9.


Point mutations and deletions of the short stature homeobox containing gene (SHOX) are detected in DCO and idiopathic short stature with some rhizomelic body disproportion, whereas mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are found in 40-70% of HCH cases.		 1(0,0,0,1) Details