Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

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 PRESENT...

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Detalles Bibliográficos
Autores principales: Rajabi, Fatemeh, Bereshneh, Ali Hosseini, Ramezanzadeh, Mahboubeh, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790879/
https://www.ncbi.nlm.nih.gov/pubmed/35081921
http://dx.doi.org/10.1186/s12887-022-03132-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790879/
https://www.ncbi.nlm.nih.gov/pubmed/35081921
http://dx.doi.org/10.1186/s12887-022-03132-5

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