Associated Papers
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.
Qi Y et al.
Molecular Genetics & Genomic Medicine, 2025
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
Wang RY et al.
Journal of Orthopaedic Surgery and Research, 2024
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
35546307 (PubMed )
Supplement: MGG3-10-e1968-s002.xlsx › table
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M et al.
Journal of Medical Genetics, 2021
32591344 (PubMed )
Supplement: jmedgenet-2020-106948supp001.pdf
A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.
Ni F et al.
Annals of Plastic Surgery, 2019
GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
Patel R et al.
Congenital Anomalies, 2016
Letter to the editor regarding: "Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients" Clinica Chimica acta 433 (2014) 195-199.
Baas M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ et al.
Human Mutation, 2010
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