3 Result(s)
within
Rongwei Guan
Human Genetics
-
Article
Open AccessA heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family
Synpolydactyly type 1 (SPD1), also known as syndactyly type II, is an autosomal dominant limb deformity generally results in webbing of 3rd and 4th fingers, duplication of 4th or 5th toes. It is most commonly ...
-
Article
Open AccessAssociation between sister chromatid exchange and double minute chromosomes in human tumor cells
Double minute chromosomes (DMs) are the cytogenetic hallmark of extra-chromosomal genomic amplification. They can well represent the advanced stage of malignancy. However, the mechanisms of DM generation are s...
-
Article
Open AccessCombinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis....
