Associated Papers
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Mutai H et al.
Human Genetics, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.
Ullah A et al.
Molecular Syndromology, 2017
Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1.
Ullah A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.
Proudfoot A et al.
Journal of Molecular Biology, 2016
The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6-/- shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand.
Conte D et al.
Human Molecular Genetics, 2016
The Dlx5 and Foxg1 transcription factors, linked via miRNA-9 and -200, are required for the development of the olfactory and GnRH system.
Garaffo G et al.
Molecular and Cellular Neurosciences, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
Rattanasopha S et al.
Journal of Medical Genetics, 2014
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
Sowińska-Seidler A et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
Wang X et al.
European Journal of Human Genetics : Ejhg, 2014
DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.
Restelli M et al.
Human Molecular Genetics, 2014
BMP-mediated functional cooperation between Dlx5;Dlx6 and Msx1;Msx2 during mammalian limb development.
Vieux-Rochas M et al.
Plos One, 2013
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
Shamseldin HE et al.
Journal of Medical Genetics, 2012
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