• <em>SALL4</em>-Related Disorders
• A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4
• A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote
• A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
• A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly
• A novel mutation (g.106737G&gt;T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia
• A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form
• A Rare Combination of Heptadactyl and Hexadactyl Polydactyly in a Neonate
• A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
• Aberrant FGF signaling, independent of ectopic hedgehog signaling, initiates preaxial polydactyly in Dorking chickens
• Acrocallosal syndrome in fetus: focus on additional brain abnormalities
• Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene
• Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement
• Bilateral preaxial polydactyly in a WAGR syndrome patient
• Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
• Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development
• Can on-top plasty for atypical radial polydactyly realize a functional reconstruction corresponding to appearance?
• Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1
• Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract
• Clinical Characteristics and Distribution of Thumb Polydactyly in South China: A Retrospective Analysis of 483 Hands
• Clinical study of 459 polydactyly cases in China, 2010 to 2014
• Compound heterozygous alterations in intraflagellar transport protein <em>CLUAP1</em> in a child with a novel Joubert and oral-facial-digital overlap syndrome
• Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association
• Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects
• Congenital malformations of the hand and forearm in children: what radiologists should know
• Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree
• Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel <em>SALL1</em> nonsense mutation: A case report
• Diagnosis and treatment of thumb polydactyly with symphalangism in children
• Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report
• Discordant Type I Preaxial Polydactyly in Monozygotic Twins on the Same Hand: A Case Report
• Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome
• Distal Dorsal Dimelia: A Disturbance of Dorsal-Ventral Digit Development
• Does timing of surgery influence the long-term results of foot polydactyly treatment?
• Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism
• Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
• Evaluation and Management of Preaxial Polydactyly
• Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations
• Familial crossed polysyndactyly in four generations of an Indian family
• FGF-regulated Etv genes are essential for repressing Shh expression in mouse limb buds
• Foot Function in Patients With Surgically Treated Preaxial Polydactyly of the Foot Compared With Age- and Sex-Matched Healthy Controls
• Foot hexadactyly, social implications and management in the African setting: Case report
• Genetic analysis of one family with congenital limb malformations
• Genetic interaction of Gli3 and Alx4 during limb development
• GLI3 constrains digit number by controlling both progenitor proliferation and BMP-dependent exit to chondrogenesis
• GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis
• Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model
• Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
• Improving Metacarpophalangeal Joint Instability by Joint Implantation in Parallel From a Supernumerary Thumb in Severely Hypoplastic Duplicated Thumbs
• Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation
• Lateral Versus Medial Hallux Excision in Preaxial Polydactyly of the Foot
• Long-Term Clinical and Radiographic Follow-Up of Preaxial Polydactyly Reconstruction
• Long-term outcomes following radial polydactyly reconstruction
• Management of aggressive posterior retinopathy of prematurity in oculocutaneous albinism
• Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?
• Mirror foot with Trapezoidal dysplastic Tibia- A Case Report
• Modified Bilhaut-Cloquet Procedure for the Reconstruction of Wassel Type III Radial Polydactyly
• Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis
• Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly
• Nail-based reconstruction strategies for Wassel-Flatt type IVh thumb polydactyly with a floating ulnar digit: A preliminary report with 63 thumbs
• Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood
• Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family
• Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly
• Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature
• Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
• Oblique Osteotomy for the Correction of the Zigzag Deformity of Wassel Type IV Polydactyly
• On-Top-Plasty for Atypical Thumb Duplication: A Case Report With 10 Year Follow-up
• Partial trisomy 4q and preaxial limb defects
• Polydactyl inheritance in the pig
• Preaxial polydactyly following early gestational exposure to the smoothened agonist, SAG, in C57BL/6J mice
• Preaxial polydactyly of the hand: 15 years of experience
• Prediction of Surgical Outcomes of Radial Polydactyly From the Wassel-Flatt Type and Symmetry of Duplication
• Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism
• Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association
• Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat
• RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome
• Rare case of tibial hemimelia, preaxial polydactyly, and club foot
• Reconstruction for dysplastic polydactyly of thumb with an island compound flap
• Reoperation after primary operation for pre-axial polydactyly of the hand: A 12-year experience at a single institute
• Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome
• Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly
• Sudden death in a child with Carpenter Syndrome. Case report and literature review
• Supernumerary Digit
• Supporting the collateral ligament complex in radial polydactyly type Wassel IV
• Surgical Reconstruction Technique of Two Patients With Tarsal Type Preaxial Polydactyly: Two True Prehalluces
• The Duplicated Thumb: A Review
• The Greig cephalopolysyndactyly syndrome
• The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities
• The spectrum of preaxial polydactyly of the foot
• Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins
• Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
• Treatment of Dangling-Type Thumb Polydactyly: Suture Ligation vs. Surgical Excision
• Triphalangeal thumb with polydactyly: an alternative surgical method
• Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons
• Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly
• Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
• Vascular limb defects and maternal age
• When Is Primary Metacarpal Corrective Osteotomy Recommended in Patients with Flatt Type IV Radial Polydactyly?
• Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
• Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly
• ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics