Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

In conclusion, our findings provided additional evidence of involvement of homozygous sequence variants in the SP7, SERPINF1, SPARC and WNT1 genes causing severe OI. It also highlights the importance of extensive genetic investigations to search for the culprit gene in each case of skeletal deformity.
PMID: 32413570 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - May 11, 2020 Category: Genetics & Stem Cells Authors: Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M Tags: Eur J Med Genet Source Type: research