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

Fatemeh RajabiAli Hosseini BereshnehMahboubeh RamezanzadehMasoud Garshasbi

Published in: BMC pediatrics (2022)

The c.1537 C>A; p.(Leu513Met) variant has not been reported in any databases so far and therefore is novel. This is the third compound heterozygote report in XYLT1 and further supports the high heterogeneity of this disease.

Keyphrases

copy number
early onset
single cell
genome wide
tyrosine kinase
big data
genome wide identification
transcription factor