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
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
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
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA et al.
Molecular Genetics & Genomic Medicine, 2017
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