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
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
Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.
Sivasankaran A et al.
Molecular Syndromology, 2016
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
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