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| Skeletal Dysplasia_Fetal v0.127 | SHOX | Zornitza Stark Marked gene: SHOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.127 | SHOX | Zornitza Stark Gene: shox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.127 | SHOX | Zornitza Stark Classified gene: SHOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.127 | SHOX | Zornitza Stark Gene: shox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.121 | SHOX |
Krithika Murali gene: SHOX was added gene: SHOX was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: SHOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOX were set to 29330548 Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700 Review for gene: SHOX was set to GREEN Added comment: Deletions common. Pseudoautosomal dominant inheritance as SHOX gene located on the pseudoautosomal region of X and Y chromosome. PMID 29330548 report 5 unrelated infants with antenatally detected isolated short long bones attributable to SHOX haploinsufficiency. Sources: Expert list, Literature |
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