Associated Papers
X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3.
Qiu C et al.
World Journal of Pediatrics : Wjp, 2022
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2020
A novel nonsense variant in PLS3 causes X-linked osteoporosis in a Chinese family.
Wang L et al.
Annals of Human Genetics, 2020
Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X-linked osteoporosis.
Wang L et al.
Clinical Genetics, 2018
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18.
Chen T et al.
International Journal of Endocrinology, 2018
PLS3 mutations in X-linked osteoporosis with fractures.
van Dijk FS et al.
The New England Journal of Medicine, 2013
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