Associated Papers
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene.
Campopiano MC et al.
Frontiers in Endocrinology, 2022
The role of WNT1 mutant variant (WNT1c.677C>T ) in osteogenesis imperfecta.
Zhang B et al.
Annals of Human Genetics, 2020
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Cao YJ et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019
Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation.
Ang K et al.
Bone Reports, 2018
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
Kausar M et al.
Journal of Biomedical Science, 2018
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
Kuptanon C et al.
Bmc Medical Genetics, 2018
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
Umair M et al.
Pediatric Research, 2017
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2017
Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.
Palomo T et al.
Bone, 2014
Disulfide bond requirements for active Wnt ligands.
MacDonald BT et al.
The Journal of Biological Chemistry, 2014
Mutations in WNT1 are a cause of osteogenesis imperfecta.
Fahiminiya S et al.
Journal of Medical Genetics, 2013