一个新的 CHST3 等位基因与巴基斯坦血统的脊椎骨骨发育不良和听力损失相关。
关键词: CHST3 osteochondrodysplasias skeletal dysplasia spondyloepiphyseal dysplasia
Mesh : Adult Alleles Amino Acid Sequence Base Sequence Child Child, Preschool Consanguinity Disease Progression Exome Female Gene Expression Hearing Loss, Bilateral / complications diagnostic imaging genetics pathology Heart Valve Diseases / complications diagnostic imaging genetics pathology High-Throughput Nucleotide Sequencing Humans Male Models, Molecular Mutation Osteochondrodysplasias / complications congenital diagnostic imaging genetics pathology Pedigree Phenotype Sulfotransferases / genetics Carbohydrate Sulfotransferases
来 源:
DOI:10.1111/cge.12694
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