Disease: Split hand/foot malformation X-linked
- <em>PORCN</em>-Related Developmental Disorders
- A complex structural variant near <em>SOX3</em> causes X-linked split-hand/foot malformation
- A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
- A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation
- 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 missense mutation in WNT10B in familial split-hand/foot malformation
- A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation
- Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene
- Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias
- Duplication of 10q24 locus: broadening the clinical and radiological spectrum
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report
- Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly
- Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
- Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation
- Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot)
- International research symposium on Goltz syndrome
- 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
- Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals
- Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway
- Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
- Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome)
- Split-hand/foot malformation - molecular cause and implications in genetic counseling
- The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene
- The split hand syndrome in amyotrophic lateral sclerosis