Disease: Polydactyly postaxial
- A Case of Postaxial Polydactyly Managed Under Local Anesthesia
- A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9)
- A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes
- A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly
- A Rare Combination of Heptadactyl and Hexadactyl Polydactyly in a Neonate
- A rare polydactyly of the forefoot with partial duplication of the 5th metatarsal and supernumerary digit: A case report
- A Retrospective Review of Patient-reported Outcomes after Postaxial Polydactyly Ligation and Surgical Excision
- A streamlined one-stop service for the excision of type B post-axial polydactyly
- Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations
- Bardet-Biedl syndrome: a case series
- Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
- Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child
- Comparison of Surgical Wait Times and Procedure Length in the Management of Postaxial Polydactyly Using Local or General Anesthesia
- Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome
- Congenital three generation wide familial non-syndromic polydactyly
- Ellis-van Creveld syndrome: a case report
- Examination of Postoperative Outcomes Using Morphological and X-Ray Classifications and Selection of the Toe to Be Excised in Postaxial Polydactyly of the Foot
- Identification of <em>GLI1</em> and <em>KIAA0825</em> Variants in Two Families with Postaxial Polydactyly
- Identification of a Novel <em>IQCE</em> Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
- Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly
- Morphologic Changes in Postaxial Polydactyly of the Foot: A Standardized Quantitative Analysis Using the Watanabe-Fujita Classification
- Morphological Changes in Postaxial Polydactyly of the Foot: A Standardized Quantitative Analysis Using the Watanabe-Fujita Classification
- Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin
- Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review
- Novel Finding of an Excess Bone in Postaxial Polydactyly of the Foot
- On-Top Plasty in Post-Axial Polydactyly: A Case Report and Recommendation to Modify the Classifications
- Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe
- Orthopaedic Diagnoses in the Black Pediatric Population
- Papa Bear's Journal Club Survival Guide
- Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report
- Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome
- Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
- Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly
- Postaxial polydactyl (vestigial digit) in a military patient
- Postaxial polydactyly of the bilateral hand in toddler: Case report and literature review
- Potential benefit of rapid genetic testing for Pallister-Hall syndrome
- Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the <em>KIAA0825</em> Gene in a Fetus with Postaxial Polydactyly Type A
- Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome
- Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft
- RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report
- Sum of parts: an approach to reconstruction for Type A postaxial polydactyly using metacarpal transposition
- Surgical Excision of Postaxial Polydactyly Type B in the Office Setting
- Surgical management of bilateral preaxial and postaxial polydactyly with syndactyly: A case report
- The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
- The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review
- Treatment for Lateral Ray Polydactyly with Brachydactyly of the Foot
- Ubiquitylation of BBSome is required for ciliary assembly and signaling
- Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy
- Usefulness of Intraoperative Arthrography for Postaxial Polysyndactyly of the Foot
- Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
- Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
- Web Exclusive. Annals Story Slam - Papa Is on a Ventilator
- Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs
- Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of <em>BBS9</em>
- Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality
