Skeletal Dysplasia_Fetal

Gene: PLS3

I don't know

First reported in 2013 (PMID 24088043). Associated with childhood-onset primary osteoporosis with presentations of varying severity with a phenotype similar to osteogenesis imperfecta.

No published reports of antenatal diagnosis.
Sources: Expert list, Literature

Created: 2 Dec 2021, 1:43 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Bone mineral density QTL18, osteoporosis - MIM#300910

Publications

• 32655496
• 25209159
• 29736964
• 29884797
• 28777485
• 24088043