Disease: Triphalangeal thumb polysyndactyly syndrome
- A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
- A family with complex bilateral polysyndacty
- A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
- A new family with the Townes-Brocks syndrome
- A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
- A novel acropectoral syndrome maps to chromosome 7q36
- A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly
- A pedigree of syndactyly and triphalangeal thumb in three consecutive generations (author's transl)
- A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome
- A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family
- 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
- A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations
- An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36
- An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family
- Application of the IFSSH(3)-classification for congenital anomalies of the hand; results and problems
- 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
- Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family
- Classification for congenital anomalies of the hand: the IFSSH classification and the JSSH modification
- Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
- Complex radial polydactyly in a Chinese family: inclusion of triphalangism, triplication, and syndactyly
- Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature
- Congenital triangular bones in the hand
- Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0
- Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
- Genetic aspects of polydactyly
- Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36
- Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome
- Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela
- Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
- Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing
- Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome
- Laurin-Sandrow syndrome with additional associated manifestations
- Linkage of preaxial polydactyly type 2 to 7q36
- Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36
- Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease
- Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease
- Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome
- Phenotypic analysis of triphalangeal thumb and associated hand malformations
- Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36
- Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report
- Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the <em>LMBR1</em> Gene: First Case Report in Fujian Province of China
- Synpolydactyly with a triphalangeal thumb--a new type of synpolydactyly?
- The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of their genetic component
- The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions
- Therapeutic possibilities malformations of the metacarpus
- Three cases of syndactyly, polydactyly, and hypoplastic triphalangeal thumb: (Haas's malformation)
- Thumb/hallux duplication and preaxial polydactyly type I
- Treatment alternatives of congenital hand differences with thumb hypoplasia involvement
- Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance
- Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer
- Triphalangeal thumbs with brachyectrodactyly: a sporadic case
- Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature
- Verification of thumb-specific muscles in a triphalangeal thumb with magnetic resonance imaging
- Werner mesomelic dysplasia with Hirschsprung disease