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| Short stature - SHOX deficiency v0.1 | SHOX | Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short stature - SHOX deficiency v0.1 | SHOX | Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short stature - SHOX deficiency v0.1 | SHOX |
Achchuthan Shanmugasundram gene: SHOX was added gene: SHOX was added to Short stature - SHOX deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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| Short stature - SHOX deficiency v0.0 |
Achchuthan Shanmugasundram Added Panel Short stature - SHOX deficiency Set list of related panels to R52 Set panel types to: GMS Rare Disease |
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