Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
Abstract Background Desbuquois dysplasia type 2 (DBQD2) is an infrequent dysplasia with a wide range of symptoms, including facial deformities, growth retardation and short long bones. It is an autosomal recessive disorder caused by mutations in the XYLT1 gene that encodes xylosyltransferase-1. Case...
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| Główni autorzy: | , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMC
2022-01-01
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| Seria: | BMC Pediatrics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s12887-022-03132-5 |
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