A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta
Indian J Pediatr
.
2023 Jun;90(6):626.
doi: 10.1007/s12098-023-04541-9.
Epub 2023 Mar 30.
Authors
Agnes Selina
1
2
,
Deeptiman James
1
,
Vrisha Madhuri
3
4
Affiliations
1
Department of Pediatric Orthopedics, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India.
2
Centre for Stem Cell Research, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, 632004, India.
3
Department of Pediatric Orthopedics, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India. madhuriwalter@cmcvellore.ac.in.
4
Centre for Stem Cell Research, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, 632004, India. madhuriwalter@cmcvellore.ac.in.
PMID:
36995644
DOI:
10.1007/s12098-023-04541-9
No abstract available
Publication types
Letter
MeSH terms
Humans
Mutation
Osteogenesis Imperfecta* / genetics
Osteonectin / genetics
RNA Splice Sites / genetics
Substances
RNA Splice Sites
SPARC protein, human
Osteonectin
Grants and funding
BT/IN/SWEDEN/09/VM/2017/Department of Biotechnology, Ministry of Science and Technology, India
54/9/2015-HUM BMS./Indian Council of Medical Research