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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD11660Q96PZ263901
FAM111A
Serine protease FAM111A
Homo sapiens