Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.

Meena BalasubramanianNadja Fratzl-ZelmanRory O'SullivanMary BullNicola Fa PeelRebecca C PollittRebecca JonesElizabeth MilneKath SmithPaul RoschgerKlaus KlaushoferNicholas J Bishop

Published in: American journal of medical genetics. Part A (2018)

This report includes a review of IJO and genetic causes of osteoporosis, and suggests that existing cases of IJO should be screened for PLS3. Through analysis of bone material properties in Patient 2, we can conclude that PLS3 does have a role in bone mineralisation.

Keyphrases

bone mineral density
postmenopausal women
body composition
soft tissue
bone loss
bone regeneration
copy number
case report
genome wide
gene expression