Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
PMID: 28132690
Gene: EXTL3
Disease: Neuro-immuno-skeletal Dysplasia Syndrome
MonDO: 0010668
Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)