Associated Papers
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS et al.
Nature Communications, 2022
36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_5
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
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
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
Mutations in WNT1 are a cause of osteogenesis imperfecta.
Fahiminiya S et al.
Journal of Medical Genetics, 2013
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