Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
| author |
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| created | [InstanceEdit:9941068] Stephan, Ralf, 2025-03-07 |
| dbId | 9941281 |
| displayName | Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities |
| journal | Am J Hum Genet |
| pages | 1044-1061 |
| pubMedIdentifier | 33159882 |
| schemaClass | LiteratureReference |
| title | Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities |
| url | http://www.ncbi.nlm.nih.gov/pubmed/33159882 |
| volume | 107 |
| year | 2020 |
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