GGC Repeat Expansion and Exon 1 Methylation of XYLT1 is a Common Pathogenic Variant in Baratela-Scott Syndrome.
The American Journal of Human Genetics（2018）
关键词
XYLT1,methylation,epigenetic,trinucleotide repeat,repeat expansion,skeletal dysplasia,Desbuquois dysplasia,16p13 deletion,fragile site
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