rs1060499548 in
ABL1 gene and
2-3 toe syndactyly
PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs768663992 in
CLUAP1 gene and
2-3 toe syndactyly
PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
rs1057524157 in
DEAF1 gene and
2-3 toe syndactyly
PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
rs1135401744 in
KYNU gene and
2-3 toe syndactyly
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.