Associated Papers
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1
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
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
Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.
Lu Y et al.
Bone, 2018
Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient.
Lu Y et al.
Intractable & Rare Diseases Research, 2018
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