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Browse result for Gracile bone dysplasia
※ introduction Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities.[1] This subtype of Kenny-Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.[2]
Reference
Wiki: Gracile bone dysplasia
Reference
Wiki: Gracile bone dysplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD11660 | Q96PZ2 | 63901 | FAM111A | Serine protease FAM111A | Homo sapiens |
