PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature
Clin Dysmorphol
.
2023 Jan 1;32(1):43-47.
doi: 10.1097/MCD.0000000000000442.
Epub 2022 Nov 28.
Authors
Louise J Apperley
1
,
Shadi Albaba
2
,
Poonam Dharmaraj
1
,
Meena Balasubramanian
3
4
5
Affiliations
1
Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool.
2
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust.
3
Department of Oncology and Metabolism, University of Sheffield.
4
Sheffield Clinical Genetics Service.
5
Highly Specialised Severe, Complex and Atypical Osteogenesis Imperfecta Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
PMID:
36503925
DOI:
10.1097/MCD.0000000000000442
No abstract available
MeSH terms
Gene Deletion
Genes, X-Linked*
Humans