Disease: Split hand split foot malformation autosomal recessive
- <em>FGFR1</em>-Related Hartsfield Syndrome
- A Novel Heterozygous Intragenic Sequence Variant in <em>DLX6</em> Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1
- A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1
- A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family
- Duplication of 10q24 locus: broadening the clinical and radiological spectrum
- Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
- First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation
- Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families
- Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation
- Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot)
- Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
- Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
- Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families
- Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family
- Split-hand/feet malformation in three tamilian families and review of the reports from India
- Split-hand/foot malformation - molecular cause and implications in genetic counseling