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Published in 2022 at "BMC Pediatrics"
DOI: 10.1186/s12887-022-03143-2
Abstract: Background Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an ultra-rare genetic condition that belongs to the group of spondyloepimetaphyseal dysplasias. It is caused due to presence of biallelic variants in the EXTL3 gene. The encoded…
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Keywords:
ultra rare;
extl3 gene;
patient;
case ... See more keywords