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Radial dysplasia v1.23 SHOX Arina Puzriakova Phenotypes for gene: SHOX were changed from Leri-Weill dyschondrosteosis, 127300; bowing of the radius; radioulnar shortening; Langer mesomelic dysplasia, 249700; curved radius; dorsolateral bowed, short radii to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening
Radial dysplasia v1.15 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Radial dysplasia v1.7 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
Radial dysplasia v1.7 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Radial dysplasia SHOX Helen Brittain marked SHOX as ready
Radial dysplasia SHOX Helen Brittain commented on SHOX
Radial dysplasia SHOX Helen Brittain classified SHOX as green
Radial dysplasia SHOX Rebecca Foulger commented on SHOX