Article
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
European journal of medical genetics - 1 Oct 2022
Biji Ishpreet K, Yadav Siddharth, Kulshrestha Samarth, Saxena Renu, Kohli Sudha, Verma I C, Kumar Benu, Puri Ratna Dua
Abstract excerpt
BACKGROUND: Pathogenic variants in the transmembrane sulfate transporter protein SLC26A2 are associated with different phenotypes of inherited chondrodysplasias. As limited data is published from India, in this study we sought to elucidate the molecular basis of inherited chondrodysplasias in an Indian cohort. METHODS: Molecular screening of 32 fetuses with antenatally diagnosed lethal skeletal dysplasia was...
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