Disease: Absence of tibia with polydactyly
- A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle
- A benign form of congenital anterolateral bowing of the tibia associated with ipsilateral polydactyly of the hallux: case report and literature review
- A case of short rib polydactyly
- A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
- A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report
- A rare case of diplopodia and syndactyly: anatomical and surgical considerations
- A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
- Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder
- Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis
- Analysis of Msx1; Msx2 double mutants reveals multiple roles for Msx genes in limb development
- Anatomical features associated with preaxial duplication (pd): a recessive mutation in the rat
- Anatomy of a duplicated human foot from a limb with fibular dimelia
- Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family
- Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India
- Congenital absence of the tibiae and thumbs with polydactyly. A rare genetic disease (Werner's syndrome)
- Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
- Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association
- Five-fingered hand associated with partial or complete tibial absence and pre-axial polydactyly. A kindred of 15 affected individuals in five generations
- Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report
- Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
- Supernumerary and absent limbs and digits of the lower limb: a review of the literature
- Tibial hemimelia and femoral bifurcation
- Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report
- Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report
- Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia
- Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields