Associated Papers
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Singh S et al.
American Journal of Medical Genetics. Part A, 2024
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Otaify GA et al.
American Journal of Medical Genetics. Part A, 2023
A Chinese case of CHST3-related skeletal dysplasia and a systematic review.
Liang H et al.
Endocrine, 2023
Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.
Brady SW et al.
Nature Communications, 2020
33056981 (PubMed )
Supplement: 41467_2020_18987_MOESM7_ESM.xlsx › 4
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.
Muys J et al.
Clinical Case Reports, 2017
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
Srivastava P et al.
American Journal of Medical Genetics. Part A, 2017
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